Full data view for gene FKBP14

Ehlers Danlos Syndrome Variant Database


Information The variants shown are described using the NM_017946.4 transcript reference sequence.

46 entries on 1 page. Showing entries 1 - 46.
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Effect     

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AscendingDNA change (cDNA)     

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Protein     

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DNA change (genomic) (hg19)     

DNA change (hg38)     

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Methylation     

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ID_report     

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+/. _1_4_ c.0 r.0 p.0 - - Unknown - pathogenic g.23187650_32932034del - - - ADCYAP1R1_000001 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - 1 Johan den Dunnen
?/. 1 c.? r.? p.? - - Both (homozygous) - VUS g.? - c.143T>A (Met48Lys) - EZH2_000001 - PubMed: Ganapathy 2019 - - Germline - - - 0 - DNA SEQ-NG - TruSight One panel ? S-2493 PubMed: Ganapathy 2019 - - - India - - 0 - - 1 Johan den Dunnen
+/. - c.2T>G r.(?) p.(Met1?) - - Both (homozygous) - pathogenic (recessive) g.30066123A>C g.30026507A>C - - FKBP14_000017 - - - - Germline - - - 0 - DNA SEQ-NG-I - - EDSKSCL2 - - - - - - - - - - - 1 Marlies Colman
+/+ 1 c.42_60del r.(?) p.(Thr15*) nonsense deletion Paternal (confirmed) - pathogenic g.30066065_30066083del g.29491928_29491946del - - FKBP14_000012 - PubMed: Baumann 2012, Journal: Baumann 2012 - - Unknown - - - 0 - DNA SEQ - - EDS P6 PubMed: Baumann 2012, Journal: Baumann 2012 - F ? Germany white - 0 - - 1 Division of Human Genetics, Innsbruck
+/+ 01 c.143T>A r.(?) p.(Met48Lys) missense substitution Both (homozygous) - pathogenic (recessive) g.30065982A>T g.30026366A>T - - FKBP14_000011 - PubMed: Giunta 2018 - - Germline - - - 0 - DNA SEQ - - EDS P1/FI PubMed: Giunta 2018 - F - Egypt Arab - 0 - - 1 Johan den Dunnen
-/. - c.165C>T r.(?) p.(Tyr55=) - - Parent #1 - benign g.30065960G>A g.30026344G>A - - FKBP14_000010 120 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs17150692 Germline - 120/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 120 Mohammed Faruq
-/. - c.165C>T r.(?) p.(Tyr55=) - - Both (homozygous) - benign g.30065960G>A g.30026344G>A - - FKBP14_000010 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs17150692 Germline - 1/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
+/. - c.197+5_197+8del r.(197_198insguaauuaugccccgcag ) p.(His67*) - - Both (homozygous) - pathogenic (recessive) g.30065924_30065927del g.30026308_30026311del - - FKBP14_000004 - PubMed: Giunta 2018 - - Germline - - - 0 - DNA SEQ - - EDS P2/FII PubMed: Giunta 2018 - F - Iran - - 0 - - 1 Johan den Dunnen
+/. 01 c.197+5_197+8del r.(197_198insguaauuaugccccgcag ) p.(His67*) splicing affected deletion Both (homozygous) - pathogenic (recessive) g.30065924_30065927del g.30026308_30026311del - - FKBP14_000004 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. PubMed: Giunta 2018 - - Germline - - - 0 - DNA SEQ - - EDS P3/FIII PubMed: Giunta 2018 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Pakistan - - 0 - - 2 Johan den Dunnen
+/. 01 c.197+5_197+8del r.197_198insguaauuaugccccgcag p.His67* splicing affected deletion Both (homozygous) - pathogenic (recessive) g.30065924_30065927del g.30026308_30026311del - - FKBP14_000004 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. PubMed: Giunta 2018 - - Germline - - - 0 - DNA SEQ - - EDS P4/FIII PubMed: Giunta 2018 - M - Pakistan - - 0 - - 1 Johan den Dunnen
+/. 01 c.197+5_197+8del r.197_198insguaauuaugccccgcag p.His67* splicing affected deletion Both (homozygous) - pathogenic (recessive) g.30065924_30065927del g.30026308_30026311del - - FKBP14_000004 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. PubMed: Giunta 2018 - - Germline - - - 0 - DNA SEQ - - EDS P5/FIV PubMed: Giunta 2018 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Pakistan - - 0 - - 2 Johan den Dunnen
+/+ 01i c.197+5_197+8del r.spl? p.? splicing affected? deletion Both (homozygous) - pathogenic g.30065924_30065927del - - - FKBP14_000004 - PubMed: Aldeeri et al., 2014 - - Unknown - - - 0 - DNA SEQ - - EDS, EDSKSCL2 - PubMed: Aldeeri et al., 2014 This patient was presented again by {PMID27023906: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. - - - - - 0 - - 1 Raymond Dalgleish
+?/. - c.197+5_197+8del r.spl p.? - - Both (homozygous) ACMG likely pathogenic g.30065924_30065927del g.30026308_30026311del 197+5_197+8delGTAA - FKBP14_000004 ACMG PVS1, PM2 PubMed: Anazi 2017 - - Germline - - - 0 - DNA SEQ-NG - WES ID 07DG-0027 PubMed: Anazi 2017 simplex case M yes Saudi Arabia - - 0 - - 1 Johan den Dunnen
+/+ 3 c.362dup r.(?) p.(Glu122Argfs*7) frameshift duplication Paternal (confirmed) - pathogenic g.30058727dup g.30019111dup - - FKBP14_000001 - PubMed: Baumann 2012, Journal: Baumann 2012 - - Unknown - - - 0 - DNA SEQ - - EDS - PubMed: Baumann 2012 The proband (P1) is great nephew of individual P2 who is also homozygous for the same variant. M ? Austria white - 0 - - 1 Division of Human Genetics, Innsbruck
+/+ 3 c.362dup r.(?) p.(Glu122Argfs*7) - - Maternal (confirmed) - pathogenic g.30058727dup g.30019111dup - - FKBP14_000001 - PubMed: Baumann 2012, Journal: Baumann 2012 - - Unknown - - - - - DNA SEQ - - EDS - PubMed: Baumann 2012 The proband (P1) is great nephew of individual P2 who is also homozygous for the same variant. M ? Austria white - 0 - - 1 Division of Human Genetics, Innsbruck
+/+ 3 c.362dup r.(?) p.(Glu122Argfs*7) - - Paternal (confirmed) - pathogenic g.30058727dup g.30019111dup - - FKBP14_000001 - PubMed: Baumann 2012, Journal: Baumann 2012 - - Unknown - - - - - DNA SEQ - - EDS - PubMed: Baumann 2012 umbical herniae F ? Austria white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 3 c.362dup r.(?) p.(Glu122Argfs*7) - - Maternal (confirmed) - pathogenic g.30058727dup g.30019111dup - - FKBP14_000001 - PubMed: Baumann 2012, Journal: Baumann 2012 - - Unknown - - - - - DNA SEQ - - EDS - PubMed: Baumann 2012 umbical herniae F ? Austria white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 3 c.362dup r.(?) p.(Glu122Argfs*7) frameshift duplication Paternal (confirmed) - pathogenic g.30058727dup g.30019111dup - - FKBP14_000001 - PubMed: Baumann 2012, Journal: Baumann 2012 - - Unknown - - - 0 - DNA SEQ - - EDS - PubMed: Baumann 2012 umbilical herniae F ? Italy white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 3 c.362dup r.(?) p.(Glu122Argfs*7) frameshift duplication Maternal (confirmed) - pathogenic g.30058727dup g.30019111dup - - FKBP14_000001 - PubMed: Baumann 2012, Journal: Baumann 2012 - - Unknown - - - 0 - DNA SEQ - - EDS - PubMed: Baumann 2012 umbilical herniae F ? Italy white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 3 c.362dup r.(?) p.(Glu122Argfs*7) frameshift duplication Paternal (confirmed) - pathogenic g.30058727dup g.30019111dup - - FKBP14_000001 - PubMed: Baumann 2012, Journal: Baumann 2012 - - Unknown - - - 0 - DNA SEQ - - EDS - PubMed: Baumann 2012 PubMed: Bursztejn 2017 - F ? France white - 0 - - 1 Division of Human Genetics, Innsbruck
+/+ 3 c.362dup r.(?) p.(Glu122Argfs*7) frameshift duplication Maternal (confirmed) - pathogenic g.30058727dup g.30019111dup - - FKBP14_000001 - PubMed: Baumann 2012, Journal: Baumann 2012 - - Unknown - - - 0 - DNA SEQ - - EDS - PubMed: Baumann 2012 PubMed: Bursztejn 2017 - F ? France white - 0 - - 1 Division of Human Genetics, Innsbruck
+/+ 3 c.362dup r.(?) p.(Glu122Argfs*7) frameshift duplication Paternal (confirmed) - pathogenic g.30058727dup g.30019111dup - - FKBP14_000001 - PubMed: Baumann 2012, Journal: Baumann 2012 - - Unknown - - - 0 - DNA SEQ - - EDS - PubMed: Baumann 2012, Journal: Baumann 2012 umbilical herniae, microcephaly, learning difficulties M ? - white - 0 - - 1 Division of Human Genetics, Innsbruck
+/+ 3 c.362dup r.(?) p.(Glu122Argfs*7) frameshift duplication Maternal (confirmed) - pathogenic g.30058727dup g.30019111dup - - FKBP14_000001 - PubMed: Baumann 2012, Journal: Baumann 2012 - - Unknown - - - 0 - DNA SEQ - - EDS - PubMed: Baumann 2012, Journal: Baumann 2012 umbilical herniae, microcephaly, learning difficulties M ? - white - 0 - - 1 Division of Human Genetics, Innsbruck
+/+ 03 c.362dup r.(?) p.(Glu122Argfs*7) frameshift duplication Maternal (confirmed) - pathogenic g.30058727dup g.30019111dup - - FKBP14_000001 - PubMed: Baumann 2012, Journal: Baumann 2012 - - Unknown - - - 0 - DNA SEQ - - EDS P6 PubMed: Baumann 2012, Journal: Baumann 2012 - F ? Germany white - 0 - - 1 Division of Human Genetics, Innsbruck
+/. - c.362dup r.(?) p.(Glu122Argfs*7) - - Both (homozygous) - pathogenic (recessive) g.30058727dup g.30019111dup 362dupC - FKBP14_000001 - PubMed: Giunta 2018 - - Germline - - - 0 - DNA SEQ - - EDS P6/FIV PubMed: Giunta 2018 - M - Pakistan - - 0 - - 1 Johan den Dunnen
+/. 3 c.362dup r.(?) p.(Glu122Argfs*7) frameshift duplication Both (homozygous) - pathogenic (recessive) g.30058727dup g.30019111dup 363dupC - FKBP14_000001 - PubMed: Giunta 2018 - - Germline - - - 0 - DNA SEQ - - EDS P7/FV PubMed: Giunta 2018 - F - Croatia (Hrvatska) - - 0 - - 1 Johan den Dunnen
+/. 3 c.362dup r.(?) p.(Glu122Argfs*7) frameshift duplication Both (homozygous) - pathogenic (recessive) g.30058727dup g.30019111dup 364dupC - FKBP14_000001 - PubMed: Giunta 2018 - - Germline - - - 0 - DNA SEQ - - EDS P8/FVI PubMed: Giunta 2018 - F - Austria - - 0 - - 1 Johan den Dunnen
+/. 03 c.362dup r.(?) p.(Glu122Argfs*7) frameshift duplication Both (homozygous) - pathogenic (recessive) g.30058727dup g.30019111dup 365dupC - FKBP14_000001 - PubMed: Giunta 2018 - - Germline - - - 0 - DNA SEQ - - EDS P9/FVII PubMed: Giunta 2018 - F - Brazil white - 0 - - 1 Johan den Dunnen
+/. - c.362dup r.(?) p.(Glu122Argfs*7) - - Both (homozygous) - pathogenic (recessive) g.30058727dup g.30019111dup 366dupC - FKBP14_000001 - PubMed: Giunta 2018 - - Germline - - - 0 - DNA SEQ - - EDS P10/FVIII PubMed: Giunta 2018 - F - United States white - 0 - - 1 Johan den Dunnen
+/. - c.362dup r.(?) p.(Glu122Argfs*7) - - Both (homozygous) - pathogenic (recessive) g.30058727dup g.30019111dup 367dupC - FKBP14_000001 - PubMed: Giunta 2018 - - Germline - - - 0 - DNA SEQ - - EDS P11/FIX PubMed: Giunta 2018 - M - United States white - 0 - - 1 Johan den Dunnen
+/. - c.362dup r.(?) p.(Glu122Argfs*7) - - Both (homozygous) - pathogenic (recessive) g.30058727dup g.30019111dup 368dupC - FKBP14_000001 - PubMed: Giunta 2018 - - Germline - - - 0 - DNA SEQ - - EDS P12/FX PubMed: Giunta 2018 - F - Poland - - 0 - - 1 Johan den Dunnen
+/. - c.362dup r.(?) p.(Glu122Argfs*7) - - Both (homozygous) - pathogenic (recessive) g.30058727dup g.30019111dup 369dupC - FKBP14_000001 - PubMed: Giunta 2018 - - Germline - - - 0 - DNA SEQ - - EDS P13/FXI PubMed: Giunta 2018 - F - United Kingdom (Great Britain) white - 0 - - 1 Johan den Dunnen
+/. - c.362dup r.(?) p.(Glu122Argfs*7) - - Both (homozygous) - pathogenic (recessive) g.30058727dup g.30019111dup 370dupC - FKBP14_000001 - PubMed: Giunta 2018 - - Germline - - - 0 - DNA SEQ - - EDS P14/FXII PubMed: Giunta 2018 - M - Turkey - - 0 - - 1 Johan den Dunnen
+/. - c.362dup r.(?) p.(Glu122Argfs*7) - - Both (homozygous) - pathogenic (recessive) g.30058727dup g.30019111dup 371dupC - FKBP14_000001 - PubMed: Giunta 2018 - - Germline - - - 0 - DNA SEQ - - EDS P15/FXIII PubMed: Giunta 2018 - F - United Kingdom (Great Britain) white - 0 - - 1 Johan den Dunnen
+/. - c.362dup r.(?) p.(Glu122Argfs*7) - - Both (homozygous) - pathogenic (recessive) g.30058727dup g.30019111dup 372dupC - FKBP14_000001 - PubMed: Giunta 2018 - - Germline - - - 0 - DNA SEQ - - EDS P16/FXIV PubMed: Giunta 2018 - M - United Kingdom (Great Britain) white - 0 - - 1 Johan den Dunnen
+/. - c.362dup r.(?) p.(Glu122Argfs*7) - - Both (homozygous) - pathogenic (recessive) g.30058727dup g.30019111dup 373dupC - FKBP14_000001 - PubMed: Giunta 2018 - - Germline - - - 0 - DNA SEQ - - EDS Pat17 PubMed: Giunta 2018 - M - United Kingdom (Great Britain) white - 0 - - 1 Johan den Dunnen
+/+ 3 c.362dup r.(?) p.(Glu122Argfs*7) frameshift duplication Paternal (inferred) - pathogenic g.30058727dup - - - FKBP14_000001 - {PMID27149304 :Dordoni et al. 2016} - - Unknown - - - 0 - DNA PCR, SEQ - - EDS, EDSKSCL2 - {PMID27149304 :Dordoni et al. 2016} 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 Italy - 0 - - 1 Raymond Dalgleish
+/+ 3 c.362dup r.(?) p.(Glu122Argfs*7) frameshift duplication Both (homozygous) - pathogenic g.30058727dup - - - FKBP14_000001 - PubMed: Murray et al., 2014 - - Unknown - - - 0 - DNA PCR, SEQ - - EDS, EDSKSCL2 - PubMed: Murray et al., 2014 - - - Germany;United Kingdom (Great Britain) German & English American - 0 - - 1 Raymond Dalgleish
+/+ 3 c.362dup r.(?) p.(Glu122Argfs*7) frameshift duplication Both (homozygous) - pathogenic g.30058727dup - - - FKBP14_000001 - PubMed: Bursztejn et al.,2016 - - Unknown - - - 0 - DNA ? - - EDS, EDSKSCL2 - PubMed: Bursztejn et al.,2016 - - - France France - 0 - - 1 Raymond Dalgleish
+/+ 3 c.362dup r.(?) p.(Glu122Argfs*7) frameshift duplication Both (homozygous) - pathogenic g.30058727dup - - - FKBP14_000001 - PubMed: Ruiz-Botero et al., 2019 - - Unknown - - - 0 - DNA SEQ-NG - - EDS, EDSKSCL2 - PubMed: Ruiz-Botero et al., 2019 The patient (17F) was born to consanguineous parents who are first cousins. The technique used was whole exome sequencing. - - Colombia Colombian - 0 - - 1 Raymond Dalgleish
+/+ 3 c.362dup r.(?) p.(Glu122Argfs*7) frameshift duplication Both (homozygous) - pathogenic g.30058727dup - - - FKBP14_000001 - PubMed: Castori et al., 2019 - - Unknown - - - 0 - DNA SEQ-NG, SEQ - - EDS, EDSKSCL2 - PubMed: Castori et al., 2019 The patient (15F) was conceived via IVF and has an unaffected twin brother. Parents were not consanguineous. The technique used was the custom NGS Gene panel. - - - - - 0 - - 1 Raymond Dalgleish
+/. - c.362dup r.(?) p.(Glu122ArgfsTer7) - - Both (homozygous) - pathogenic (recessive) g.30058731dup g.30019115dup 362dupC - FKBP14_000001 - - - - Germline - - - 0 - DNA SEQ-NG-I - - EDSKSCL2 - - - - - - - - - - - 1 Marlies Colman
-/- 4 c.496_498del r.(?) p.(Lys166del) deletion deletion Unknown - likely benign g.30054489_30054491del - - - FKBP14_000008 - PubMed: Volozonoka et al., 2020 - - Unknown - - - 0 - DNA SEQ-NG - - ? Case 2 PubMed: Volozonoka et al., 2020 The patient (37F) presented with a diagnosis and/or history of cervical insufficiency, a leading cause of preterm birth.The technique used was the custom NGS Gene panel. - - - white - 0 - - 1 Raymond Dalgleish
+/+ 4 c.523dup r.(?) p.(Val175Glyfs*3) frameshift duplication Both (homozygous) - pathogenic g.30054464dup - - - FKBP14_000005 - PubMed: Giunta et al., 2018 - - Unknown - - - 0 - DNA SEQ - - EDS, EDSKSCL2 P1/F1 PubMed: Giunta et al., 2018 - - - Egypt Egypt/Ara - 0 - - 1 Cecilia Giunta
+/+? 4 c.573_575del r.(?) p.(Glu191del) deletion deletion Maternal (inferred) - likely pathogenic g.30054412_30054414del - - - FKBP14_000003 - {PMID27149304 :Dordoni et al. 2016} - - Unknown - - - 0 - DNA PCR, SEQ - - EDS, EDSKSCL2 - {PMID27149304 :Dordoni et al. 2016} 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 Italy - 0 - - 1 Raymond Dalgleish
+/. - c.587A>G r.(?) p.(Asp196Gly) - - Both (homozygous) - pathogenic g.30054400T>C - - - FKBP14_000016 - - - - Germline - - - 0 - DNA SEQ-NG-I - - EDSKSCL2 - - - - - - - - - - - 1 Marlies Colman
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