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LOVD - Variant listings for TNXB

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+?/+? 02 c.85C>T dbSNP Substitution Missense p.(Arg29Trp) - - - TNXB_00012 EDS Zweers et al., 2005 DNA PCR, SEQ The patient had normal TNX serum levels. -
+/+ 02 c.107_108delinsA
    + c.7826-1G>C
- Insertion/Deletion Nonsense p.Ala36Aspfs*68 - - - TNXB_00034 Family XI TNXB EDS Demirdas et al., 2016 DNA CNGP, MLPA, SEQ - -
+?/+? 03 c.903del
    + c.12464-1G>A
- Deletion Nonsense p.Tyr301* - - - TNXB_00031 Family V TNXB EDS Demirdas et al., 2016 DNA CNGP, SEQ This patient was previously described in Voermans et al., 2009. -
+/+? 03 c.1150dupG
    + c.11435_11524+30del
- Duplication Nonsense p.Glu384Glyfs*57 - - - TNXB_00024 Patient 2 Classical-like EDS Micale et al., 2019 DNA CNGP, MLPA, PCR, SEQ The patient carried a c.1150dupG variant and a pseudogene(TNXA)-derived 120bps deletion, likely the result of the formation of a chimeric TNXA/TNXB fusion gene. Italian
+/+ 03 c.2116_2117dup
    + c.2116_2117dup
- Duplication Frameshift p.(Glu707*) - - - TNXB_00002 Patient 4 EDS AR Schalkwijk et al., 2001 DNA PCR, SEQ This patient's parents were unavailable for study. The variant was incorrectly described as an insertion, rather than a duplication. awjm1
+/+ 5-6 c.(2358+1_2359-1)_(2779+1_2780-1)del
    + c.8278C>T
- Deletion Nonsense p.Thr787Glyfs*40 - - - TNXB_00023 Patient 1 Classical-like EDS Micale et al., 2019 DNA CNGP, MLPA, PCR, SEQ The patient carried a c.8278C>T variant and a deletion including exons 5 and 6, generating a frameshift with the insertion of a premature stop codon. The exact start and end points of the deletion were uncertain. Italian
+?/+? 05 c.2461C>T
    + c.11435_11524+30del
- Substitution Nonsense p.Arg821* - - - TNXB_00033 Family IX TNXB EDS Demirdas et al., 2016 DNA CNGP, MLPA, SEQ - -
?/-? 06 c.2531A>G - Substitution Missense p.(Gln844Arg) - - - TNXB_00009 j_bertz EDS III United States:Omaha DNA CNGP The testing laboratory (University of Nebraska Medical Center) describes this variant as being of "Uncertain Clinical Significance". The status of patient's disease classification has been changed from EDS III to "undiagnosed" on the basis of further clinical tests - 3 May 2017. Caucasian
+/+ 06 c.2539C>T
    + c.3574C>T
- Substitution Nonsense p.(Arg847*) - - - TNXB_00005 TNXB EDS Sakiyama et al., 2015 DNA CNGP, PCR, SEQ The patient had recurrent gastrointenstinal perforation. Japanese
+?/+? 06 c.2590C>T
    + c.12553C>T
- Substitution Nonsense p.Gln864* - - - TNXB_00030 Family III TNXB EDS Demirdas et al., 2016 DNA CNGP, MLPA, SEQ - -
+?/+? 06 c.2590C>T
    + c.11435_11524+30del, c.12174C>G
- Substitution Nonsense p.Gln864* - - - TNXB_00030 Family VIII TNXB EDS Demirdas et al., 2016 DNA CNGP, MLPA, SEQ The patient carried a TNXB/TNXA fusion gene with a 30kb deletion encompassing CYP21A2 on the allele from Parent #2. -
+?/+? 06 c.2633G>A - Substitution Missense p.(Gly878Asp) - - - TNXB_00037 29 VUR Tokhmafshan et al., 2020 DNA PCR, SEQ - European (non-Finnish)
+/+ 08 c.3290_3291del
    + c.3290_3291del
- Deletion Frameshift p.(Lys1097Argfs*48) - - - TNXB_00001 Patient 1 EDS AR Schalkwijk et al., 2001 DNA PCR, SEQ This patient's mother was deceased, but the patient's sister was heterozygous for the variant, with the maternal allele carrying the deletion. This patient was subsequently described by Voermans et al., 2007 and Voermans et al., 2007. -
+/+ 08 c.3290_3291del
    + c.3290_3291del
- Deletion Frameshift p.(Lys1097Argfs*48) - - - TNXB_00001 Patient 5 EDS AR Schalkwijk et al., 2001 DNA PCR, SEQ This patient's parents were unavailable for study. -
+?/+? 08 c.3290_3291del
    + c.11435_11524+30del, c.12174C>G
- Deletion Frameshift p.(Lys1097Argfs*48) - - - TNXB_00001 Family VII TNXB EDS Demirdas et al., 2016 DNA CNGP, MLPA, SEQ This patient was previously described as Patient 2 in Hendriks et al., 2012. The patient carried a TNXB/TNXA fusion gene from Parent#2 with a 30kb deletion encompassing CYP21A2. The fusion gene carried the described variants. -
+?/+? 08 c.3322G>A dbSNP Substitution Missense p.(Val1108Met) - - - TNXB_00014 EDS III Zweers et al., 2005 DNA PCR, SEQ The patient had normal TNX serum levels. The variant is incorrectly described by the authors as "3583AG". -
+?/- 09 c.3488G>A - Substitution Missense p.Gly1163Glu - - - TNXB_00036 12 VUR Tokhmafshan et al., 2020 DNA PCR, SEQ - European (non-Finnish)
+/+ 09 c.3574C>T
    + c.2539C>T
- Substitution Nonsense p.(Gln1192*) - - - TNXB_00006 TNXB EDS Sakiyama et al., 2015 DNA CNGP, PCR, SEQ The patient had recurrent gastrointenstinal perforation. Japanese
+/+? 09 c.3637G>A
    + c.7774G>A
- Substitution Missense p.(Val1213Ile) - - - TNXB_00010 OI/EDS Mackenroth et al., 2016 DNA SEQ, WES The patient also harbours the COL1A1 variant c.4006-1G>A. German
+/+ 10 c.3991G>A - Substitution Missense p.(Gly1331Arg) - - - TNXB_00007 Family 2 VUR Gbadegesin et al., 2013 DNA PCR, SEQ - Caucasian
+/+? 15 c.5362del
    + c.5362del
- Deletion Nonsense p.Thr1788Profs*100 - - - TNXB_00026 Classical-like EDS Rymen et al., 2019 DNA PCR, SEQ - Swiss
+?/+? 17 c.6074A>T - Substitution Missense p.(Asp2025Val) - - - TNXB_00015 43 EDS III Lee et al., 2014 DNA PCR, SEQ, WGS - -
+/+? 17 c.6074A>T - Substitution Missense p.(Asp2025Val) - - - TNXB_00015 TNXB EDS Kaufman and Butler, 2016 DNA CNGP - Ashkenazi Jewish
+?/+? 17i c.6221-2_6221-1delinsCA - Insertion/Deletion Splice site - - - - TNXB_00039 27 VUR Tokhmafshan et al., 2020 DNA PCR, SEQ - -
+?/- 19 c.6649C>T - Substitution Missense p.(Pro2217Ser) - - - TNXB_00038 48 VUR Tokhmafshan et al., 2020 DNA PCR, SEQ - European (non-Finnish)
?/? 21 c.7348G>A
    + c.7560dupC
- Substitution Missense p.(Gly2450Arg) - - - TNXB_00017 EDS III Canada:Bowmanville DNA PCR, SEQ The patient's older affected sister also harbours the duplication sequence variant. rwmd
+/+ 22 c.7560dupC
    + c.7348G>A
- Duplication Frameshift p.(Glu2521Argfs*16) - - - TNXB_00016 EDS III Canada:Bowmanville DNA PCR, SEQ The patient's older affected sister also harbours the duplication sequence variant. rwmd
+/+? 22 c.7774G>A
    + c.3637G>A
- Substitution Missense p.(Gly2592Ser) - - - TNXB_00011 OI/EDS Mackenroth et al., 2016 DNA SEQ, WES The patient also harbours the COL1A1 variant c.4006-1G>A. German
?/- 22 c.7802C>T
    + c.7826-4C>T
- Substitution Missense p.Pro2601Leu - - - TNXB_00028 IVAD82 Artery dissections Wang et al., 2018 DNA SEQ, WES The variants cause susceptibility towards the phenotype, but are not confirmed to be pathogenic in isolation. Han Chinese
?/- 22i c.7826-4C>T
    + c.7802C>T
- Substitution Splice site - - - - TNXB_00027 IVAD82 Artery dissections Wang et al., 2018 DNA SEQ, WES The variants cause susceptibility towards the phenotype, but are not confirmed to be pathogenic in isolation. Han Chinese
-/- 22i c.7826-1G>C
    + c.107_108delinsA
- Substitution Splice site - - - - TNXB_00027 Family XI TNXB EDS Demirdas et al., 2016 DNA CNGP, MLPA, SEQ - -
+/+ 24 c.8278C>T
    + c.(2358+1_2359-1)_(2779+1_2780-1)del
- Substitution Nonsense p.Gln2760* - - - TNXB_00022 Patient 1 Classical-like EDS Micale et al., 2019 DNA CNGP, MLPA, PCR, SEQ The patient carried a c.8278C>T variant and a deletion including exons 5 and 6, generating a frameshift with the insertion of a premature stop codon. The exact start and end points of the deletion were uncertain. Italian
+/+ 29 c.9764C>T - Substitution Missense p.(Thr3255Ile) - - - TNXB_00008 Family 6606 VUR Gbadegesin et al., 2013 DNA PCR, SEQ, WES The variant was described in the published account as ENST00000375244:c.9770C>T Caucasian
+?/- 29i c.10040-4C>T - Substitution Splice site - - - - TNXB_00040 47 VUR Tokhmafshan et al., 2020 DNA PCR, SEQ - South Asian
?/+? 33 c.11155C>T - Substitution Missense p.(Arg3719Trp) - - - TNXB_00004 Michelle Dolan EDS III United States:Melville DNA SEQ Performed by Prevention Genetics. The proband's sister and daughter also harbour the same variant but are not definitively diagnosed as having EDS III. English, Dutch
+/+ 33 c.11155C>T - Substitution Missense p.(Arg3719Trp) - - - TNXB_00004 EDS III Germany:Neumarkt DNA PCR, SEQ - German
+?/+? 33 c.11155C>T - Substitution Missense p.(Arg3719Trp) - - - TNXB_00004 20 VUR Tokhmafshan et al., 2020 DNA PCR, SEQ - European (non-Finnish)
+?/+? 35i c.11435_11524+30del
    + c.1150dupG
- Deletion Splice site - - - - TNXB_00025 Patient 2 Classical-like EDS Micale et al., 2019 DNA CNGP, MLPA, PCR, SEQ The patient carried a c.1150dupG variant and a pseudogene(TNXA)-derived 120bps deletion, likely the result of the formation of a chimeric TNXA/TNXB fusion gene. Italian
-/- 35i c.11435_11524+30del
    + c.12174C>G
- Deletion Splice site - - - - TNXB_00025 Family II TNXB EDS Demirdas et al., 2016 DNA CNGP, MLPA, SEQ This patient was previously described in Schalkwijk et al., 2001 as Patient 2. There are two other siblings carrying the same variant and phenotype. The variants are TNXA-derived, probably due to the formation of a chimeric gene. -
-/- 35i c.11435_11524+30del
    + c.11435_11524+30del, c.12174C>G
- Deletion Splice site - - - - TNXB_00025 Family IV TNXB EDS Demirdas et al., 2016 DNA CNGP, MLPA, SEQ This family was previously described in Voermans et al., 2009. The patient carried a TNXB/TNXA fusion gene on the allele for Parent #1, causing a 30kb deletion encompassing CYP21A2. The fusion gene carried the described variants. -
-/- 35i c.11435_11524+30del
    + c.3290_3291del, c.12174C>G
- Deletion Splice site - - - - TNXB_00025 Family VII TNXB EDS Demirdas et al., 2016 DNA CNGP, MLPA, SEQ This patient was previously described as Patient 2 in Hendriks et al., 2012. The patient carried a TNXB/TNXA fusion gene from Parent#2 with a 30kb deletion encompassing CYP21A2. The fusion gene carried the described variants. -
-/- 35i c.11435_11524+30del
    + c.2590C>T, c.12174C>G
- Deletion Splice site - - - - TNXB_00025 Family VIII TNXB EDS Demirdas et al., 2016 DNA CNGP, MLPA, SEQ The patient carried a TNXB/TNXA fusion gene with a 30kb deletion encompassing CYP21A2 on the allele from Parent #2. -
-/- 35i c.11435_11524+30del
    + c.2461C>T
- Deletion Splice site - - - - TNXB_00025 Family IX TNXB EDS Demirdas et al., 2016 DNA CNGP, MLPA, SEQ - -
+?/+? 35i c.11435_11524+30del - Deletion Splice site - - - - TNXB_00025 CAH, EDS Lao et al., 2019 DNA PCR, SEQ 26 patients with congenital adrenal hyperplasia showed evidence of the CAH-X CH-1 genotype, a chimeric TNXA/TNXB gene featuring the described variant. Up to 24 patients had a complete or partial clinical evaluation for EDS. -
+?/-? 39 c.11956C>A dbSNP Substitution Missense p.(Leu3986Ile) - - - TNXB_00013 EDS III Zweers et al., 2005 DNA PCR, SEQ The patient had normal TNX serum levels. The variant is incorrectly described by the authors as "12097CA". This is a common sequence variant which is unlikely to be disease-causing. -
+?/+? 40 c.12174C>G - Substitution Missense p.Cys4058Trp - - - TNXB_00018 Family 1: II-2 CAH Morissette et al., 2015 DNA CNGP, PCR, SEQ The patient and his father carried a pseudogene-derived variant from the formation of a chimeric gene between TNXA and TNXB. They showed some characteristics of hypermobile EDS. -
+?/+? 40 c.12174C>G - Substitution Missense p.Cys4058Trp - - - TNXB_00018 Family 2: II-1 CAH Morissette et al., 2015 DNA CNGP, PCR, SEQ The patient and her mother carried a pseudogene-derived variant from the formation of a chimeric gene between TNXA and TNXB. They had several characteristics of hypermobile EDS. -
+?/+? 40 c.12174C>G - Substitution Missense p.Cys4058Trp - - - TNXB_00018 Family 3: II-1 CAH Morissette et al., 2015 DNA CNGP, PCR, SEQ The patient and her mother carried a pseudogene-derived variant from the formation of a chimeric gene between TNXA and TNXB. They showed some characteristics of hypermobile EDS. -
+?/+? 40 c.12174C>G - Substitution Missense p.Cys4058Trp - - - TNXB_00018 Family 4: II-2 CAH Morissette et al., 2015 DNA CNGP, PCR, SEQ The patient and his father carried a pseudogene-derived variant from the formation of a chimeric gene between TNXA and TNXB. They showed significant characteristics of hypermobile EDS. -
+?/+? 40 c.12174C>G - Substitution Missense p.Cys4058Trp - - - TNXB_00018 Family 5: II-3 CAH Morissette et al., 2015 DNA CNGP, PCR, SEQ The patient and her father carried a pseudogene-derived variant from the formation of a chimeric gene between TNXA and TNXB. Both patients showed characteristics of hypermobile EDS, and the father showed no CAH phenotype. -
+?/+? 40 c.12174C>G - Substitution Missense p.Cys4058Trp - - - TNXB_00018 Family 6: II-1 CAH Morissette et al., 2015 DNA CNGP, PCR, SEQ The patient, her mother, and brother carried a pseudogene-derived variant from the formation of a chimeric gene between TNXA and TNXB. The mother was a carrier for CAH, but did not display the phenotype. -
+?/+? 40 c.12174C>G - Substitution Missense p.Cys4058Trp - - - TNXB_00018 Family 7:II-3 CAH Morissette et al., 2015 DNA CNGP, PCR, SEQ The patient, her mother, and sister carried a pseudogene-derived variant from the formation of a chimeric gene between TNXA and TNXB. The mother and sister were carriers for CAH, but did not display the phenotype. -
+?/+? 40 c.12174C>G
    + c.12218G>A, c.12218G>A, c.12514G>A, c.12514G>A, c.12524G>A, c.12524G>A
- Substitution Missense p.Cys4058Trp - - - TNXB_00018 P1 CAH, EDS Chen et al., 2016 DNA CNGP, PCR, SEQ The patient is homozygous for a three variant cluster, c. 12218G>A, c.12514G>A, and c.12524G>A, which authors present as a novel chimeric form causing CAH and TNXB haploinsufficiency. -
+?/+? 40 c.12174C>G
    + c.12218G>A, c.12218G>A, c.12514G>A, c.12524G>A
- Substitution Missense p.Cys4058Trp - - - TNXB_00018 P2 CAH, EDS Chen et al., 2016 DNA CNGP, PCR, SEQ The patient inherited a three variant cluster, c. 12218G>A, c.12514G>A, and c.12524G>A, which authors present as a novel chimeric form causing CAH and TNXB haploinsufficiency. -
+?/+? 40 c.12174C>G
    + c.12174C>G
- Substitution Missense p.Cys4058Trp - - - TNXB_00018 P3 CAH, EDS Chen et al., 2016 DNA CNGP, PCR, SEQ - -
+?/- 40 c.12174C>G
    + c.11435_11524+30del
- Substitution Missense p.Cys4058Trp - - - TNXB_00018 Family II TNXB EDS Demirdas et al., 2016 DNA CNGP, MLPA, SEQ This patient was previously described in Schalkwijk et al., 2001 as Patient 2. There are two other siblings carrying the same variant and phenotype. The variants are TNXA-derived, probably due to the formation of a chimeric gene. -
-/- 40 c.12174C>G
    + c.11435_11524+30del, c.11435_11524+30del
- Substitution Missense p.Cys4058Trp - - - TNXB_00018 Family IV TNXB EDS Demirdas et al., 2016 DNA CNGP, MLPA, SEQ This family was previously described in Voermans et al., 2009. The patient carried a TNXB/TNXA fusion gene on the allele for Parent #1, causing a 30kb deletion encompassing CYP21A2. The fusion gene carried the described variants. -
-/- 40 c.12174C>G
    + c.3290_3291del, c.11435_11524+30del
- Substitution Missense p.Cys4058Trp - - - TNXB_00018 Family VII TNXB EDS Demirdas et al., 2016 DNA CNGP, MLPA, SEQ This patient was previously described as Patient 2 in Hendriks et al., 2012. The patient carried a TNXB/TNXA fusion gene from Parent#2 with a 30kb deletion encompassing CYP21A2. The fusion gene carried the described variants. -
-/- 40 c.12174C>G
    + c.2590C>T, c.11435_11524+30del
- Substitution Missense p.Cys4058Trp - - - TNXB_00018 Family VIII TNXB EDS Demirdas et al., 2016 DNA CNGP, MLPA, SEQ The patient carried a TNXB/TNXA fusion gene with a 30kb deletion encompassing CYP21A2 on the allele from Parent #2. -
-/- 40 c.12174C>G
    + c.12174C>G
- Substitution Missense p.Cys4058Trp - - - TNXB_00018 Family X TNXB EDS Demirdas et al., 2016 DNA CNGP, SEQ This patient was previously described in Hendriks et al., 2012. The patient carries a TNXB/TNXA fusion gene with a 30kb deletion encompassing CYP21A2 on the allele from Parent #1. -
+?/+? 40 c.12174C>G - Substitution Missense p.Cys4058Trp - - - TNXB_00018 CAH, EDS Lao et al., 2019 DNA PCR, SEQ 18 patients with congenital adrenal hyperplasia carried the CAH-X CH-2 genotype, a chimeric TNXA/TNXB gene carrying the described variants. Up to 16 patients had a complete or partial clinical evaluation for EDS. -
+/+ 41 c.12214C>T - Substitution Missense p.(Arg4072Cys) - - - TNXB_00003 TNXB deficiency PĂ©nisson-Besnier et al., 2013 DNA SEQ This patient's maternal allele carries a complex rearrangement, which was first described by Burch et al., 1997. -
+?/- 41 c.12214C>T - Substitution Missense p.(Arg4072Cys) - - - TNXB_00003 TNXB deficiency Penisson-Besnier DNA SEQ The patient carried a TNXA/TNXB fusion gene with a 30kb deletion on one allele, and the c.12214C>T variant on the other allele. His father and brother were asymptomatic and heterozygous for only the substitution variant. Authors predict that the variant is only pathogenic when compound heterozygous with another null allele. -
+?/- 41 c.12218G>A
    + c.12174C>G, c.12218G>A, c.12514G>A, c.12514G>A, c.12524G>A, c.12524G>A
- Substitution Missense p.Arg4073His - - - TNXB_00019 P1 CAH, EDS Chen et al., 2016 DNA CNGP, PCR, SEQ The patient is homozygous for a three variant cluster, c. 12218G>A, c.12514G>A, and c.12524G>A, which authors present as a novel chimeric form causing CAH and TNXB haploinsufficiency. -
+?/+? 41 c.12218G>A
    + c.12174C>G, c.12218G>A, c.12514G>A, c.12524G>A
- Substitution Missense p.Arg4073His - - - TNXB_00019 P2 CAH, EDS Chen et al., 2016 DNA CNGP, PCR, SEQ The patient inherited a three variant cluster, c. 12218G>A, c.12514G>A, and c.12524G>A, which authors present as a novel chimeric form causing CAH and TNXB haploinsufficiency. -
-/- 42i c.12464-1G>A
    + c.903del
- Substitution Splice site - - - - TNXB_00032 Family V TNXB EDS Demirdas et al., 2016 DNA CNGP, SEQ This patient was previously described in Voermans et al., 2009. -
+?/- 43 c.12512G>A - Substitution Missense p.(Arg4171Gln) - - - TNXB_00035 5 VUR Tokhmafshan et al., 2020 DNA PCR - European (non-Finnish)
+?/+? 43 c.12514G>A
    + c.12174C>G, c.12218G>A, c.12218G>A, c.12514G>A, c.12524G>A, c.12524G>A
- Substitution Missense p.Asp4172Asn - - - TNXB_00020 P1 CAH, EDS Chen et al., 2016 DNA CNGP, PCR, SEQ The patient is homozygous for a three variant cluster, c. 12218G>A, c.12514G>A, and c.12524G>A, which authors present as a novel chimeric form causing CAH and TNXB haploinsufficiency. -
+?/+? 43 c.12514G>A
    + c.12174C>G, c.12218G>A, c.12218G>A, c.12524G>A
- Substitution Missense p.Asp4172Asn - - - TNXB_00020 P2 CAH, EDS Chen et al., 2016 DNA CNGP, PCR, SEQ The patient inherited a three variant cluster, c. 12218G>A, c.12514G>A, and c.12524G>A, which authors present as a novel chimeric form causing CAH and TNXB haploinsufficiency. -
+?/+? 43 c.12524G>A
    + c.12174C>G, c.12218G>A, c.12218G>A, c.12514G>A, c.12514G>A, c.12524G>A
- Substitution Missense p.Ser4175Asn - - - TNXB_00021 P1 CAH, EDS Chen et al., 2016 DNA CNGP, PCR, SEQ The patient is homozygous for a three variant cluster, c. 12218G>A, c.12514G>A, and c.12524G>A, which authors present as a novel chimeric form causing CAH and TNXB haploinsufficiency. -
+?/+? 43 c.12524G>A
    + c.12174C>G, c.12218G>A, c.12218G>A, c.12514G>A
- Substitution Missense p.Ser4175Asn - - - TNXB_00021 P2 CAH, EDS Chen et al., 2016 DNA CNGP, PCR, SEQ The patient inherited a three variant cluster, c. 12218G>A, c.12514G>A, and c.12524G>A, which authors present as a novel chimeric form causing CAH and TNXB haploinsufficiency. -
+?/+? 43 c.12553C>T
    + c.2590C>T
- Substitution Nonsense p.Arg4185* - - - TNXB_00029 Family III TNXB EDS Demirdas et al., 2016 DNA CNGP, MLPA, SEQ - -
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Legend: [ TNXB full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Genomic Reference Sequence.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. dbSNP: dbSNP Type: Type of variant at DNA level. Mutation Effect: Mutation effect at protein or RNA level. Protein: Variation at protein level. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. Frequency: Frequency if variant is non pathogenic. TNXB DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Patient ID: Internal reference to the patient. Disease: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. Template: Variant detected in DNA, RNA and/or Protein. Technique: Technique used to detect the variation. Ethnic origin: Ethnic origin of patient