rs60399023

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs60399023(C;T)

Make rs60399023(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

41586462

Gene

KRT14

is a	snp
is	mentioned by
dbSNP	rs60399023
dbSNP (classic)	rs60399023
ClinGen	rs60399023
ebi	rs60399023
HLI	rs60399023
Exac	rs60399023
Gnomad	rs60399023
Varsome	rs60399023
LitVar	rs60399023
Map	rs60399023
PheGenI	rs60399023
Biobank	rs60399023
1000 genomes	rs60399023
hgdp	rs60399023
ensembl	rs60399023
geneview	rs60399023
scholar	rs60399023
google	rs60399023
pharmgkb	rs60399023
gwascentral	rs60399023
openSNP	rs60399023
23andMe	rs60399023
SNPshot	rs60399023
SNPdbe	rs60399023
MSV3d	rs60399023
GWAS Ctlg	rs60399023

Max Magnitude

0

OMIM	148066
Desc
Variant	0002
Related	also

ClinVar
Risk	rs60399023(G;G) rs60399023(T;T)
Alt	rs60399023(G;G) rs60399023(T;T)
Reference	Rs60399023(C;C)
Significance	Pathogenic
Disease	Epidermolysis bullosa herpetiformis not provided
Variation	info
Gene	KRT14
CLNDBN	Epidermolysis bullosa herpetiformis, Dowling-Meara not provided
Reversed	1
HGVS	NC_000017.10:g.39742714G>A; NC_000017.10:g.39742714G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015716.22, RCV000056717.2, RCV000056716.1,

[PMID 1717157] Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses.

[PMID 10583131] A recurrent keratin 14 mutation in Dowling-Meara epidermolysis bullosa simplex.

[PMID 11331879] A 'hot-spot' mutation alters the mechanical properties of keratin filament networks.