rs80356816
From SNPedia
Merged into | rs61126080 |
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs80356816(-;-) |
Make rs80356816(-;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 52515066 |
Gene | KRT5 |
is a | snp |
is | mentioned by |
dbSNP | rs80356816 |
dbSNP (classic) | rs80356816 |
ClinGen | rs80356816 |
ebi | rs80356816 |
HLI | rs80356816 |
Exac | rs80356816 |
Gnomad | rs80356816 |
Varsome | rs80356816 |
LitVar | rs80356816 |
Map | rs80356816 |
PheGenI | rs80356816 |
Biobank | rs80356816 |
1000 genomes | rs80356816 |
hgdp | rs80356816 |
ensembl | rs80356816 |
geneview | rs80356816 |
scholar | rs80356816 |
rs80356816 | |
pharmgkb | rs80356816 |
gwascentral | rs80356816 |
openSNP | rs80356816 |
23andMe | rs80356816 |
SNPshot | rs80356816 |
SNPdbe | rs80356816 |
MSV3d | rs80356816 |
GWAS Ctlg | rs80356816 |
Status | Merged into rs61126080 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | |
Alt | |
Reference | Rs80356816(G;G) |
Significance | Pathogenic |
Disease | Epidermolysis Bullosa Simplex |
Variation | info |
Gene | KRT5 |
CLNDBN | Epidermolysis Bullosa Simplex |
Reversed | 1 |
HGVS | NC_000012.11:g.52908850delC |
CLNSRC | OMIM Allelic Variant GeneReviews |
CLNACC | SCV000036026.1, SCV000036026.1, SCV000040663.1, SCV000040663.1, |
[PMID 12925204] A usual frameshift and delayed termination codon mutation in keratin 5 causes a novel type of epidermolysis bullosa simplex with migratory circinate erythema.
[PMID 15324323] Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case.