All variants in the FKBP14 gene

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.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Predicted     

Type/DNA     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/. _1_4_ c.0 r.0 p.0 - - - pathogenic g.23187650_32932034del - - - ADCYAP1R1_000001 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - Johan den Dunnen
?/. 1 c.? r.? p.? - - - VUS g.? - c.143T>A (Met48Lys) - EZH2_000001 - PubMed: Ganapathy 2019 - - Germline - - - 0 - Johan den Dunnen
+/. - c.2T>G r.(?) p.(Met1?) - - - pathogenic (recessive) g.30066123A>C g.30026507A>C - - FKBP14_000017 - - - - Germline - - - 0 - Marlies Colman
+/+ 1 c.42_60del r.(?) p.(Thr15*) nonsense deletion - pathogenic g.30066065_30066083del g.29491928_29491946del - - FKBP14_000012 - PubMed: Baumann 2012, Journal: Baumann 2012 - - Unknown - - - 0 - Division of Human Genetics, Innsbruck
+/+ 01 c.143T>A r.(?) p.(Met48Lys) missense substitution - pathogenic (recessive) g.30065982A>T g.30026366A>T - - FKBP14_000011 - PubMed: Giunta 2018 - - Germline - - - 0 - Johan den Dunnen
-/. - c.165C>T r.(?) p.(Tyr55=) - - - 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 - Mohammed Faruq
-/. - c.165C>T r.(?) p.(Tyr55=) - - - 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 - Mohammed Faruq
+/. - c.197+5_197+8del r.(197_198insguaauuaugccccgcag ) p.(His67*) - - - pathogenic (recessive) g.30065924_30065927del g.30026308_30026311del - - FKBP14_000004 - PubMed: Giunta 2018 - - Germline - - - 0 - Johan den Dunnen
+/. 01 c.197+5_197+8del r.(197_198insguaauuaugccccgcag ) p.(His67*) splicing affected deletion - 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 - Johan den Dunnen
+/. 01 c.197+5_197+8del r.197_198insguaauuaugccccgcag p.His67* splicing affected deletion - 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 - Johan den Dunnen
+/. 01 c.197+5_197+8del r.197_198insguaauuaugccccgcag p.His67* splicing affected deletion - 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 - Johan den Dunnen
+/+ 01i c.197+5_197+8del r.spl? p.? splicing affected? deletion - pathogenic g.30065924_30065927del - - - FKBP14_000004 - PubMed: Aldeeri et al., 2014 - - Unknown - - - 0 - Raymond Dalgleish
+?/. - c.197+5_197+8del r.spl p.? - - ACMG likely pathogenic g.30065924_30065927del g.30026308_30026311del 197+5_197+8delGTAA - FKBP14_000004 ACMG PVS1, PM2 PubMed: Anazi 2017 - - Germline - - - 0 - Johan den Dunnen
+/+ 3 c.362dup r.(?) p.(Glu122Argfs*7) frameshift duplication - pathogenic g.30058727dup g.30019111dup - - FKBP14_000001 - PubMed: Baumann 2012, Journal: Baumann 2012 - - Unknown - - - 0 - Division of Human Genetics, Innsbruck
+/+ 3 c.362dup r.(?) p.(Glu122Argfs*7) - - - pathogenic g.30058727dup g.30019111dup - - FKBP14_000001 - PubMed: Baumann 2012, Journal: Baumann 2012 - - Unknown - - - - - Division of Human Genetics, Innsbruck
+/+ 3 c.362dup r.(?) p.(Glu122Argfs*7) - - - pathogenic g.30058727dup g.30019111dup - - FKBP14_000001 - PubMed: Baumann 2012, Journal: Baumann 2012 - - Unknown - - - - - Division of Human Genetics, Innsbruck
+/+ 3 c.362dup r.(?) p.(Glu122Argfs*7) - - - pathogenic g.30058727dup g.30019111dup - - FKBP14_000001 - PubMed: Baumann 2012, Journal: Baumann 2012 - - Unknown - - - - - Division of Human Genetics, Innsbruck
+/+ 3 c.362dup r.(?) p.(Glu122Argfs*7) frameshift duplication - pathogenic g.30058727dup g.30019111dup - - FKBP14_000001 - PubMed: Baumann 2012, Journal: Baumann 2012 - - Unknown - - - 0 - Division of Human Genetics, Innsbruck
+/+ 3 c.362dup r.(?) p.(Glu122Argfs*7) frameshift duplication - pathogenic g.30058727dup g.30019111dup - - FKBP14_000001 - PubMed: Baumann 2012, Journal: Baumann 2012 - - Unknown - - - 0 - Division of Human Genetics, Innsbruck
+/+ 3 c.362dup r.(?) p.(Glu122Argfs*7) frameshift duplication - pathogenic g.30058727dup g.30019111dup - - FKBP14_000001 - PubMed: Baumann 2012, Journal: Baumann 2012 - - Unknown - - - 0 - Division of Human Genetics, Innsbruck
+/+ 3 c.362dup r.(?) p.(Glu122Argfs*7) frameshift duplication - pathogenic g.30058727dup g.30019111dup - - FKBP14_000001 - PubMed: Baumann 2012, Journal: Baumann 2012 - - Unknown - - - 0 - Division of Human Genetics, Innsbruck
+/+ 3 c.362dup r.(?) p.(Glu122Argfs*7) frameshift duplication - pathogenic g.30058727dup g.30019111dup - - FKBP14_000001 - PubMed: Baumann 2012, Journal: Baumann 2012 - - Unknown - - - 0 - Division of Human Genetics, Innsbruck
+/+ 3 c.362dup r.(?) p.(Glu122Argfs*7) frameshift duplication - pathogenic g.30058727dup g.30019111dup - - FKBP14_000001 - PubMed: Baumann 2012, Journal: Baumann 2012 - - Unknown - - - 0 - Division of Human Genetics, Innsbruck
+/+ 03 c.362dup r.(?) p.(Glu122Argfs*7) frameshift duplication - pathogenic g.30058727dup g.30019111dup - - FKBP14_000001 - PubMed: Baumann 2012, Journal: Baumann 2012 - - Unknown - - - 0 - Division of Human Genetics, Innsbruck
+/. - c.362dup r.(?) p.(Glu122Argfs*7) - - - pathogenic (recessive) g.30058727dup g.30019111dup 362dupC - FKBP14_000001 - PubMed: Giunta 2018 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.362dup r.(?) p.(Glu122Argfs*7) frameshift duplication - pathogenic (recessive) g.30058727dup g.30019111dup 363dupC - FKBP14_000001 - PubMed: Giunta 2018 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.362dup r.(?) p.(Glu122Argfs*7) frameshift duplication - pathogenic (recessive) g.30058727dup g.30019111dup 364dupC - FKBP14_000001 - PubMed: Giunta 2018 - - Germline - - - 0 - Johan den Dunnen
+/. 03 c.362dup r.(?) p.(Glu122Argfs*7) frameshift duplication - pathogenic (recessive) g.30058727dup g.30019111dup 365dupC - FKBP14_000001 - PubMed: Giunta 2018 - - Germline - - - 0 - Johan den Dunnen
+/. - c.362dup r.(?) p.(Glu122Argfs*7) - - - pathogenic (recessive) g.30058727dup g.30019111dup 366dupC - FKBP14_000001 - PubMed: Giunta 2018 - - Germline - - - 0 - Johan den Dunnen
+/. - c.362dup r.(?) p.(Glu122Argfs*7) - - - pathogenic (recessive) g.30058727dup g.30019111dup 367dupC - FKBP14_000001 - PubMed: Giunta 2018 - - Germline - - - 0 - Johan den Dunnen
+/. - c.362dup r.(?) p.(Glu122Argfs*7) - - - pathogenic (recessive) g.30058727dup g.30019111dup 368dupC - FKBP14_000001 - PubMed: Giunta 2018 - - Germline - - - 0 - Johan den Dunnen
+/. - c.362dup r.(?) p.(Glu122Argfs*7) - - - pathogenic (recessive) g.30058727dup g.30019111dup 369dupC - FKBP14_000001 - PubMed: Giunta 2018 - - Germline - - - 0 - Johan den Dunnen
+/. - c.362dup r.(?) p.(Glu122Argfs*7) - - - pathogenic (recessive) g.30058727dup g.30019111dup 370dupC - FKBP14_000001 - PubMed: Giunta 2018 - - Germline - - - 0 - Johan den Dunnen
+/. - c.362dup r.(?) p.(Glu122Argfs*7) - - - pathogenic (recessive) g.30058727dup g.30019111dup 371dupC - FKBP14_000001 - PubMed: Giunta 2018 - - Germline - - - 0 - Johan den Dunnen
+/. - c.362dup r.(?) p.(Glu122Argfs*7) - - - pathogenic (recessive) g.30058727dup g.30019111dup 372dupC - FKBP14_000001 - PubMed: Giunta 2018 - - Germline - - - 0 - Johan den Dunnen
+/. - c.362dup r.(?) p.(Glu122Argfs*7) - - - pathogenic (recessive) g.30058727dup g.30019111dup 373dupC - FKBP14_000001 - PubMed: Giunta 2018 - - Germline - - - 0 - Johan den Dunnen
+/+ 3 c.362dup r.(?) p.(Glu122Argfs*7) frameshift duplication - pathogenic g.30058727dup - - - FKBP14_000001 - {PMID27149304 :Dordoni et al. 2016} - - Unknown - - - 0 - Raymond Dalgleish
+/+ 3 c.362dup r.(?) p.(Glu122Argfs*7) frameshift duplication - pathogenic g.30058727dup - - - FKBP14_000001 - PubMed: Murray et al., 2014 - - Unknown - - - 0 - Raymond Dalgleish
+/+ 3 c.362dup r.(?) p.(Glu122Argfs*7) frameshift duplication - pathogenic g.30058727dup - - - FKBP14_000001 - PubMed: Bursztejn et al.,2016 - - Unknown - - - 0 - Raymond Dalgleish
+/+ 3 c.362dup r.(?) p.(Glu122Argfs*7) frameshift duplication - pathogenic g.30058727dup - - - FKBP14_000001 - PubMed: Ruiz-Botero et al., 2019 - - Unknown - - - 0 - Raymond Dalgleish
+/+ 3 c.362dup r.(?) p.(Glu122Argfs*7) frameshift duplication - pathogenic g.30058727dup - - - FKBP14_000001 - PubMed: Castori et al., 2019 - - Unknown - - - 0 - Raymond Dalgleish
+/. - c.362dup r.(?) p.(Glu122ArgfsTer7) - - - pathogenic (recessive) g.30058731dup g.30019115dup 362dupC - FKBP14_000001 - - - - Germline - - - 0 - Marlies Colman
-/- 4 c.496_498del r.(?) p.(Lys166del) deletion deletion - likely benign g.30054489_30054491del - - - FKBP14_000008 - PubMed: Volozonoka et al., 2020 - - Unknown - - - 0 - Raymond Dalgleish
+/+ 4 c.523dup r.(?) p.(Val175Glyfs*3) frameshift duplication - pathogenic g.30054464dup - - - FKBP14_000005 - PubMed: Giunta et al., 2018 - - Unknown - - - 0 - Cecilia Giunta
+/+? 4 c.573_575del r.(?) p.(Glu191del) deletion deletion - likely pathogenic g.30054412_30054414del - - - FKBP14_000003 - {PMID27149304 :Dordoni et al. 2016} - - Unknown - - - 0 - Raymond Dalgleish
+/. - c.587A>G r.(?) p.(Asp196Gly) - - - pathogenic g.30054400T>C - - - FKBP14_000016 - - - - Germline - - - 0 - Marlies Colman
Legend   How to query