rs121912771
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 3 | Carrier of a junctional Epidermolysis bullosa mutation |
(G;G) | 0 | common in clinvar |
Make rs121912771(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 104034193 |
Gene | COL17A1 |
is a | snp |
is | mentioned by |
dbSNP | rs121912771 |
dbSNP (classic) | rs121912771 |
ClinGen | rs121912771 |
ebi | rs121912771 |
HLI | rs121912771 |
Exac | rs121912771 |
Gnomad | rs121912771 |
Varsome | rs121912771 |
LitVar | rs121912771 |
Map | rs121912771 |
PheGenI | rs121912771 |
Biobank | rs121912771 |
1000 genomes | rs121912771 |
hgdp | rs121912771 |
ensembl | rs121912771 |
geneview | rs121912771 |
scholar | rs121912771 |
rs121912771 | |
pharmgkb | rs121912771 |
gwascentral | rs121912771 |
openSNP | rs121912771 |
23andMe | rs121912771 |
SNPshot | rs121912771 |
SNPdbe | rs121912771 |
MSV3d | rs121912771 |
GWAS Ctlg | rs121912771 |
GMAF | 0.0004591 |
Max Magnitude | 3 |
aka c.3908G>A (p.Arg1303Gln or R1303Q)
This COL17A1 mutation is considered to cause late-onset, mild junctional epidermolysis bullosa (JEB), and it is characterized by a weaker collagen XVII connection to another adhesion molecule in the skin, called laminin-332, leading to blistering and thinning skin, based on a 2018 study.[PMID 30316981]
ClinVar | |
---|---|
Risk | rs121912771(A;A) |
Alt | rs121912771(A;A) |
Reference | Rs121912771(G;G) |
Significance | Pathogenic |
Disease | Epidermolysis bullosa |
Variation | info |
Gene | COL17A1 |
CLNDBN | Epidermolysis bullosa, junctional, localisata variant |
Reversed | 1 |
HGVS | NC_000010.10:g.105793951C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000019218.29, |