Unique variants in the FKBP14 gene

Ehlers Danlos Syndrome Variant Database


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

12 entries on 1 page. Showing entries 1 - 12.
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Effect     

Reported     

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 _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 - - - - - Johan den Dunnen
?/. 1 1 c.? r.? p.? - - - VUS g.? - c.143T>A (Met48Lys) - EZH2_000001 - PubMed: Ganapathy 2019 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.2T>G r.(?) p.(Met1?) - - - pathogenic (recessive) g.30066123A>C g.30026507A>C - - FKBP14_000017 - - - - Germline - - - - - Marlies Colman
+/+ 1 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 - - - - - Division of Human Genetics, Innsbruck
+/+ 1 01 c.143T>A r.(?) p.(Met48Lys) missense substitution - pathogenic (recessive) g.30065982A>T g.30026366A>T - - FKBP14_000011 - PubMed: Giunta 2018 - - Germline - - - - - Johan den Dunnen
-/. 2 - c.165C>T r.(?) p.(Tyr55=) - - - benign g.30065960G>A g.30026344G>A - - FKBP14_000010 1 homozygous; Clinindb (India), 120 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs17150692 Germline - 1/2795 individuals, 120/2795 individuals - - - Mohammed Faruq
+/+, +/., +?/. 6 01, 01i c.197+5_197+8del r.(197_198insguaauuaugccccgcag ), r.197_198insguaauuaugccccgcag, r.spl, r.spl? p.(His67*), p.?, p.His67* splicing affected, splicing affected? deletion ACMG likely pathogenic, pathogenic, pathogenic (recessive) g.30065924_30065927del g.30026308_30026311del 197+5_197+8delGTAA - FKBP14_000004 ACMG PVS1, PM2, 1 more item PubMed: Aldeeri et al., 2014, PubMed: Anazi 2017, PubMed: Giunta 2018 - - Germline, Unknown - - - - - Johan den Dunnen, Raymond Dalgleish
+/+, +/. 29 03, 3 c.362dup r.(?) p.(Glu122Argfs*7), p.(Glu122ArgfsTer7) frameshift duplication - pathogenic, pathogenic (recessive) g.30058727dup, g.30058731dup g.30019111dup, g.30019115dup 362dupC, 363dupC, 364dupC, 365dupC, 366dupC, 367dupC, 368dupC, 369dupC, 370dupC, 371dupC, 372dupC, 1 more item - FKBP14_000001 - {PMID27149304 :Dordoni et al. 2016}, PubMed: Baumann 2012, Journal: Baumann 2012, PubMed: Giunta 2018, 4 more items - - Germline, Unknown - - - - - Johan den Dunnen, Division of Human Genetics, Innsbruck, Raymond Dalgleish, Marlies Colman
-/- 1 4 c.496_498del r.(?) p.(Lys166del) deletion deletion - likely benign g.30054489_30054491del - - - FKBP14_000008 - PubMed: Volozonoka et al., 2020 - - Unknown - - - - - Raymond Dalgleish
+/+ 1 4 c.523dup r.(?) p.(Val175Glyfs*3) frameshift duplication - pathogenic g.30054464dup - - - FKBP14_000005 - PubMed: Giunta et al., 2018 - - Unknown - - - - - Cecilia Giunta
+/+? 1 4 c.573_575del r.(?) p.(Glu191del) deletion deletion - likely pathogenic g.30054412_30054414del - - - FKBP14_000003 - {PMID27149304 :Dordoni et al. 2016} - - Unknown - - - - - Raymond Dalgleish
+/. 1 - c.587A>G r.(?) p.(Asp196Gly) - - - pathogenic g.30054400T>C - - - FKBP14_000016 - - - - Germline - - - - - Marlies Colman
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