LOVD - Variant listings for CHST14

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+/+ 01 c.85_95del
    + c.85_95del
- Deletion Frameshift p.(Arg29Glyfs*113) - - - CHST14_00015 AN_001989 Musculocontractural EDS Syx et al., 2015, Belgium:Ghent DNA PCR, SEQ - -
+/+ 01 c.145delG
    + c.145delG
- Substitution Nonsense p.(Val49*) - - - CHST14_00005 Family1 EDS VIB Malfait et al., 2010 DNA SEQ There are two affected siblings in this family. Turkish
+/+ 01 c.145delG
    + c.145delG
- Substitution Nonsense p.(Val49*) - - - CHST14_00005 Family 3 ATCS Dündar et al., 2009 DNA SEQ The variant in this family is incorrectly described as c.145_146delG. This family has been previously described by Dündar et al., 1997. Turkish
+/+ 01 c.145delG
    + c.145delG
- Substitution Nonsense p.(Val49*) - - - CHST14_00005 EDS VIB Voermans et al., 2012 DNA PCR, SEQ The variant is incorrectly presented in the paper, but the true variant details have been confirmed with the authors. A corrigendum has been submitted to the journal. -
+/+ 01 c.205A>T
    + c.842C>T
- Substitution Nonsense p.(Lys69*) r.(?) - - CHST14_00001 F4-II1 EDS VIB Miyake et al., 2010 DNA SEQ This patient was previuosly described by Yasui et al., 2003. Japanese
+/+ 01 c.390_397dup
    + c.390_397dup
- Duplication Frameshift p.(Gln133Argfs*14) - - - CHST14_00014 AN_001988 Musculocontractural EDS Syx et al., 2015, Belgium:Ghent DNA PCR, SEQ - -
+/+ 01 c.400C>G
    + c.410T>A
- Substitution Missense p.(Arg134Gly) - - - CHST14_00008 Family 2 ATCS Dündar et al., 2009 DNA SEQ This family was previously reported by Dündar et al., 2001. Turkish
+/+ 01 c.410T>A
    + c.400C>G
- Substitution Missense p.(Leu137Gln) - - - CHST14_00009 Family 2 ATCS Dündar et al., 2009 DNA SEQ This family was previously reported by Dündar et al., 2001. Turkish
+/+ 01 c.626T>C
    + c.842C>T
- Substitution Missense p.(Phe209Ser) - - - CHST14_00012 Patient 2 EDSKT Shimizu et al., 2011 DNA PCR, SEQ This patient is also referred to as Family 8, Patient 8 in tables I and II. Japanese
+/+ 01 c.638G>C
    + c.638G>C
- Substitution Missense p.(Arg213Pro) - - - CHST14_00007 Family 1 ATCS Dündar et al., 2009 DNA SEQ This family was previously described by Janecke et al., 2001. Austrian
+/+ 01 c.652C>A
    + c.652C>A
- Substitution Missense p.(Arg218Ser) - - - CHST14_00016 AN_001990 Musculocontractural EDS Syx et al., 2015, Belgium:Ghent DNA PCR, SEQ This patient has an affected brother (AN_001991) who is homozygous for the same variant. -
+/+ 01 c.676_682delinsGCTATGGGGCT
    + c.676_682delinsGCTATGGGGCT
- Insertion/Deletion Frameshift p.(Lys226Alafs*16) - - - CHST14_00010 ATCS Winters et al., 2012 DNA PCR, SEQ The published account incorrectly describes the variant at the protein level. The patient was previously misdiagnosed as having Marden-Walker syndrome. Miccosukee
+/+ 01 c.821G>C
    + c.821G>C
- Substitution Missense p.(Arg274Pro) - - - CHST14_00011 Patient 1 Musculocontractural EDS Mendoza-Londono et al., 2012 DNA PCR, SEQ The patient has a sister who is also homozygous for the mutation. Afghani
+/+ 01 c.838A>T
    + c.838A>T
- Substitution Missense p.(Met280Leu) - - - CHST14_00013 AN_001987 Musculocontractural EDS Syx et al., 2015, Belgium:Ghent DNA PCR, SEQ - -
+/+ 01 c.842C>T
    + c.842C>T
- Substitution Missense p.(Pro281Leu) r.(?) - - CHST14_00002 F2-II3 EDS VIB Miyake et al., 2010 DNA SEQ This patient was previously described by Kosho et al., 2005. Japanese
+/+ 01 c.842C>T
    + c.842C>T
- Substitution Missense p.(Pro281Leu) r.(?) - - CHST14_00002 F3-II1 EDS VIB Miyake et al., 2010 DNA SEQ - Japanese
+/+ 01 c.842C>T
    + c.878A>G
- Substitution Missense p.(Pro281Leu) r.(?) - - CHST14_00002 F6-II1 EDS VIB Miyake et al., 2010 DNA SEQ - Japanese
+/+ 01 c.842C>T
    + c.878A>G
- Substitution Missense p.(Pro281Leu) r.(?) - - CHST14_00002 F1-II1 EDS VIB Miyake et al., 2010 DNA SEQ This patient has previously been described by Kosho et al., 2005. Japanese
+/+ 01 c.842C>T
    + c.205A>T
- Substitution Missense p.(Pro281Leu) r.(?) - - CHST14_00002 F4-II1 EDS VIB Miyake et al., 2010 DNA SEQ This patient was previuosly described by Yasui et al., 2003. Japanese
+/+ 01 c.842C>T
    + c.866G>C
- Substitution Missense p.(Pro281Leu) r.(?) - - CHST14_00002 F5-II1 EDS VIB Miyake et al., 2010 DNA SEQ - Japanese
+/+ 01 c.842C>T
    + c.878A>G
- Substitution Missense p.(Pro281Leu) r.(?) - - CHST14_00002 Patient 1 EDSKT Shimizu et al., 2011 DNA PCR, SEQ This patient is also referred to as Family 7, Patient 7 in tables I and II. Japanese
+/+ 01 c.842C>T
    + c.626T>C
- Substitution Missense p.(Pro281Leu) r.(?) - - CHST14_00002 Patient 2 EDSKT Shimizu et al., 2011 DNA PCR, SEQ This patient is also referred to as Family 8, Patient 8 in tables I and II. Japanese
+/+ 01 c.842C>T
    + c.842C>T
- Substitution Missense p.(Pro281Leu) r.(?) - - CHST14_00002 EDS VIB Mochida et al., 2016 DNA SEQ - Japanese
+/+ 01 c.866G>C
    + c.842C>T
- Substitution Missense p.(Cys289Ser) r.(?) - - CHST14_00003 F5-II1 EDS VIB Miyake et al., 2010 DNA SEQ - Japanese
+/+ 01 c.878A>G
    + c.842C>T
- Substitution Missense p.(Tyr293Cys) r.(?) - - CHST14_00004 F6-II1 EDS VIB Miyake et al., 2010 DNA SEQ - Japanese
+/+ 01 c.878A>G
    + c.842C>T
- Substitution Missense p.(Tyr293Cys) r.(?) - - CHST14_00004 F1-II1 EDS VIB Miyake et al., 2010 DNA SEQ This patient has previously been described by Kosho et al., 2005. Japanese
+/+ 01 c.878A>G
    + c.878A>G
- Substitution Missense p.(Tyr293Cys) r.(?) - - CHST14_00004 Family 4 ATCS Dündar et al., 2009 DNA SEQ This family was previously described by Sonoda and Kouno, 2000. Japanese
+/+ 01 c.878A>G
    + c.842C>T
- Substitution Missense p.(Tyr293Cys) r.(?) - - CHST14_00004 Patient 1 EDSKT Shimizu et al., 2011 DNA PCR, SEQ This patient is also referred to as Family 7, Patient 7 in tables I and II. Japanese
+/+ 01 c.981_1000dup
    + c.981_1000dup
- Duplication Frameshift p.(Glu334Glyfs*107) - - - CHST14_00006 Family 2 EDS VIB Malfait et al., 2010 DNA SEQ - Indian
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Legend: [ CHST14 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. CHST14 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