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The FKBP14 mutation data have been added to a new database.

LOVD - Variant listings for FKBP14

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30 public entries
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+/+ 01 c.42_60del
    + c.362dupC
- Deletion Nonsense p.Thr15* - - - FKBP14_00002 P6 EDS FKBP22 Baumann et al., 2012 DNA PCR, SEQ, SeqArray - Germany
+/+ 01 c.143T>A
    + c.143T>A
- Substitution Missense p.(Met48Lys) - - - FKBP14_00006 P2/FII EDS FKBP22 Giunta et al.,2018, Switzerland:Zurich DNA SEQ - Iranian
+/+ 01i c.197+5_197+8del
    + c.197+5_197+8del
- Deletion Splice site - - - - FKBP14_00004 07DG0027 FKBP14 kEDS Aldeeri et al., 2014 DNA SEQ This patient was presented again by Alazami et al., 2016 as Family 17 ID: 07DG-0027. The intronic deletion is predicted to lead to the insertion of 17 nucleotides into the transcript and to a new open reading frame containing a premature termination codon. -
+/+ 01 c.197+5_197+8del
    + c.197+5_197+8del
- Deletion Splice site - - - - FKBP14_00007 P3/FIII FKBP14 kEDS Giunta et al., 2018, Switzerland:Zurich DNA SEQ The intronic deletion leads to the insertion of 17 nucleotides into the transcript and to a new open reading frame containing a premature termination codon. Pakistan
+/+ 01 c.197+5_197+8del
    + c.197+5_197+8del
- Deletion Splice site - - - - FKBP14_00007 P4/FIII FKBP14 kEDS Giunta et al., 2018, Switzerland:Zurich DNA SEQ The intronic deletion leads to the insertion of 17 nucleotides into the transcript and to a new open reading frame containing a premature termination codon. Pakistani
+/+ 01 c.197+5_197+8del
    + c.197+5_197+8del
- Deletion Splice site - - - - FKBP14_00007 P5/FIV FKBP14 kEDS Giunta et al., 2018, Switzerland:Zurich DNA SEQ The intronic deletion leads to the insertion of 17 nucleotides into the transcript and to a new open reading frame containing a premature termination codon. The patient has an affected sibling (P6/FIV) who is also homozygous for the same variant. Pakistani
+/+ 03 c.362dupC
    + c.362dupC
- Duplication Frameshift p.(Glu122Argfs*7) - - - FKBP14_00001 P1 EDS FKBP22 Baumann et al., 2012 DNA PCR, SEQ, SNP Array The proband (P1) is great nephew of individual P2 who is also homozygous for the same variant. Austria
+/+ 03 c.362dupC
    + c.362dupC
- Duplication Frameshift p.(Glu122Argfs*7) - - - FKBP14_00001 P3 EDS FKBP22 Baumann et al., 2012 DNA PCR, SEQ, SeqArray - Italy
+/+ 03 c.362dupC
    + c.362dupC
- Duplication Frameshift p.(Glu122Argfs*7) - - - FKBP14_00001 P4 EDS FKBP22 Baumann et al., 2012 DNA PCR, SEQ, SeqArray This patient was later described in more detail in Bursztejn et al., 2017 focusing on their cutaneous phenotype. France
+/+ 03 c.362dupC
    + c.362dupC
- Duplication Frameshift p.(Glu122Argfs*7) - - - FKBP14_00001 P5 EDS FKBP22 Baumann et al., 2012 DNA PCR, SEQ, SeqArray - Turkey
+/+ 03 c.362dupC
    + c.42_60del
- Duplication Frameshift p.(Glu122Argfs*7) - - - FKBP14_00001 P6 EDS FKBP22 Baumann et al., 2012 DNA PCR, SEQ, SeqArray - Germany
+/+ 03 c.362dupC
    + c.573_575del
- Duplication Frameshift p.(Glu122Argfs*7) - - - FKBP14_00001 EDS FKBP22 Dordoni et al. 2016 DNA PCR, SEQ Typographical error in 'Molecular Characterization' section states the novel mutation to be c.573_576del, not the correct c.573_575 which is stated elsewhere and confirmed by the data. Italy
+/+ 03 c.362dupC
    + c.362dupC
- Duplication Frameshift p.(Glu122Argfs*7) - - - FKBP14_00001 EDS FKBP22 Murray et al., 2014 DNA PCR, SEQ - German & English American
+/+ 03 c.362dupC
    + c.362dupC
- Duplication Frameshift p.(Glu122Argfs*7) - - - FKBP14_00001 EDS FKBP22 Bursztejn et al.,2016 DNA Unknown - France
+/+ 03 c.362dupC
    + c.362dupC
- Duplication Frameshift p. (Glu122Argfs*7) - - - FKBP14_00001 P7/FV FKBP14 kEDS Giunta et al., 2018, Switzerland:Zurich DNA SEQ - Croatian
+/+ 03 c.362dupC
    + c.362dupC
- Duplication Frameshift p.(Glu122Argfs*7) - - - FKBP14_00001 P8/FVI FKBP14 kEDS Giunta et al., 2018, Switzerland:Zurich DNA SEQ - Austrian
+/+ 03 c.362dupC
    + c.362dupC
- Duplication Frameshift p.(Glu122Argfs*7) - - - FKBP14_00001 P9/FVII FKBP14 kEDS Giunta et al., 2018, Switzerland:Zurich DNA SEQ - Brazilian/Caucasian
+/+ 03 c.362dupC
    + c.362dupC
- Duplication Frameshift p.(Glu122Argfs*7) - - - FKBP14_00001 P10/FVIII FKBP14 kEDS Giunta et al., 2018, Switzerland:Zurich DNA SEQ - Caucasian
+/+ 03 c.362dupC
    + c.362dupC
- Duplication Frameshift p.(Glu122Argfs*7) - - - FKBP14_00001 P11/FIX FKBP14 kEDS Giunta et al., 2018, Switzerland:Zurich DNA SEQ - Caucasian
+/+ 03 c.362dupC
    + c.362dupC
- Duplication Frameshift p.(Glu122Argfs*7) - - - FKBP14_00001 P12/FX FKBP14 kEDS Giunta et al., 2018, Switzerland:Zurich DNA SEQ - Caucasian
+/+ 03 c.362dupC
    + c.362dupC
- Duplication Frameshift p. (Glu122Argfs*7) - - - FKBP14_00001 P13/FXI FKBP14 kEDS Giunta et al., 2018, Switzerland:Zurich DNA SEQ - Caucasian
+/+ 03 c.362dupC
    + c.362dupC
- Duplication Frameshift p.(Glu122Argfs*7) - - - FKBP14_00001 P14/FXII FKBP14 kEDS Giunta et al., 2018, Switzerland:Zurich DNA SEQ - Turkish
+/+ 03 c.362dupC
    + c.362dupC
- Duplication Frameshift p.(Glu122Argfs*7) - - - FKBP14_00001 P15/FXIII FKBP14 kEDS Giunta et al., 2018, Switzerland:Zurich DNA SEQ - Caucasian
+/+ 03 c.362dupC
    + c.362dupC
- Duplication Frameshift p.(Glu122Argfs*7) - - - FKBP14_00001 P16/FXIV FKBP14 kEDS Giunta et al., 2018, Switzerland:Zurich DNA SEQ - Caucasian
+/+ 03 c.362dupC
    + c.362dupC
- Duplication Frameshift p.(Glu122Argfs*7) - - - FKBP14_00001 P17/FXV FKBP14 kEDS Giunta et al., 2018, Switzerland:Zurich DNA CEP - Caucasian
+/+ 03 c.362dupC
    + c.362dupC
- Duplication Frameshift p.(Glu122Argfs*7) - - - FKBP14_00001 FKBP14 kEDS Ruiz-Botero et al., 2019 DNA WES The patient (17F) was born to consanguineous parents who are first cousins. Colombian
+/+ 03 c.362dupC
    + c.362dupC
- Duplication Frameshift p.(Glu122Argfs*7) - - - FKBP14_00001 FKBP14 kEDS Castori et al., 2019 DNA CNGP, SEQ The patient (15F) was conceived via IVF and has an unaffected twin brother. Parents were not consanguineous. -
+/+? 04 c.573_575del
    + c.362dupC
- Deletion In-frame deletion p.Glu191del - - - FKBP14_00003 EDS FKBP22 Dordoni et al. 2016 DNA PCR, SEQ Typographical error in 'Molecular Characterization' section states the novel mutation to be c.573_576del, not the correct c.573_575 which is stated elsewhere and confirmed by the data. Italy
-/- 04 c.496_498del - Deletion In-frame deletion p.Lys166del - - - FKBP14_00008 Case 2 - Volozonoka et al., 2020 DNA CNGP The patient (37F) presented with a diagnosis and/or history of cervical insufficiency, a leading cause of preterm birth. Caucasian
+/+ 04 c.523dupG
    + c.523dupG
- Duplication Frameshift p.(Val175Glyfs*3) - - - FKBP14_00005 P1/F1 FKBP14 kEDS Giunta et al., 2018, Switzerland:Zurich DNA SEQ - Egypt/Arab
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Legend: [ FKBP14 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. FKBP14 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