rs62625307

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	7	BRCA1 pathogenic mutation associated with breast cancer
(G;G)	0

Make rs62625307(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43091933

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs62625307
dbSNP (classic)	rs62625307
ClinGen	rs62625307
ebi	rs62625307
HLI	rs62625307
Exac	rs62625307
Gnomad	rs62625307
Varsome	rs62625307
LitVar	rs62625307
Map	rs62625307
PheGenI	rs62625307
Biobank	rs62625307
1000 genomes	rs62625307
hgdp	rs62625307
ensembl	rs62625307
geneview	rs62625307
scholar	rs62625307
google	rs62625307
pharmgkb	rs62625307
gwascentral	rs62625307
openSNP	rs62625307
23andMe	rs62625307
SNPshot	rs62625307
SNPdbe	rs62625307
MSV3d	rs62625307
GWAS Ctlg	rs62625307

Max Magnitude

7

rs62625307, also known as Q1200X, c.3598C>T, and p.Gln1200Ter, is a SNP in the BRCA1 gene. The rare variant allele is considered pathogenic for breast cancer according to multiple sources in ClinVar.

ClinVar
Risk	rs62625307(T;T)
Alt	rs62625307(T;T)
Reference	Rs62625307(C;C)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	BRCA1
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not provided
Reversed	1
HGVS	NC_000017.10:g.41243950G>A
CLNSRC	Inc.
CLNACC	RCV000048245.5, RCV000077552.7, RCV000131819.4, RCV000159977.3,