rs57499817

minus

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

Make rs57499817(C;T)

Make rs57499817(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

52520223

Gene

KRT5

is a	snp
is	mentioned by
dbSNP	rs57499817
dbSNP (classic)	rs57499817
ClinGen	rs57499817
ebi	rs57499817
HLI	rs57499817
Exac	rs57499817
Gnomad	rs57499817
Varsome	rs57499817
LitVar	rs57499817
Map	rs57499817
PheGenI	rs57499817
Biobank	rs57499817
1000 genomes	rs57499817
hgdp	rs57499817
ensembl	rs57499817
geneview	rs57499817
scholar	rs57499817
google	rs57499817
pharmgkb	rs57499817
gwascentral	rs57499817
openSNP	rs57499817
23andMe	rs57499817
SNPshot	rs57499817
SNPdbe	rs57499817
MSV3d	rs57499817
GWAS Ctlg	rs57499817

Max Magnitude

0

OMIM	148040
Desc
Variant	0009
Related	also

ClinVar
Risk	rs57499817(T;T)
Alt	rs57499817(T;T)
Reference	Rs57499817(C;C)
Significance	Pathogenic
Disease	Epidermolysis bullosa simplex with mottled pigmentation not provided
Variation	info
Gene	KRT5
CLNDBN	Epidermolysis bullosa simplex with mottled pigmentation not provided
Reversed	1
HGVS	NC_000012.11:g.52914007G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015754.22, RCV000056643.1,

[PMID 1049409] The adult learner in nursing: a program of continuing education in a hospital based school of nursing.

[PMID 2476664 ] Isolation, sequence, and expression of a human keratin K5 gene: transcriptional regulation of keratins and insights into pairwise control.

[PMID 8799157 ] The genetic basis of epidermolysis bullosa simplex with mottled pigmentation.

[PMID 9129237] A mutation in the V1 domain of keratin 5 causes epidermolysis bullosa simplex with mottled pigmentation.

[PMID 11167681] Molecular confirmation of the unique phenotype of epidermolysis bullosa simplex with mottled pigmentation.