rs80357631

minus

Geno	Mag	Summary
(-;A)	6	BRCA1 variant considered pathogenic for breast cancer
(A;A)	0	common in clinvar

Make rs80357631(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43093055

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357631
dbSNP (classic)	rs80357631
ClinGen	rs80357631
ebi	rs80357631
HLI	rs80357631
Exac	rs80357631
Gnomad	rs80357631
Varsome	rs80357631
LitVar	rs80357631
Map	rs80357631
PheGenI	rs80357631
Biobank	rs80357631
1000 genomes	rs80357631
hgdp	rs80357631
ensembl	rs80357631
geneview	rs80357631
scholar	rs80357631
google	rs80357631
pharmgkb	rs80357631
gwascentral	rs80357631
openSNP	rs80357631
23andMe	rs80357631
SNPshot	rs80357631
SNPdbe	rs80357631
MSV3d	rs80357631
GWAS Ctlg	rs80357631

Max Magnitude

6

rs80357631, also known as 2595delA, c.2476_2476delA and p.Thr826Glnfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357631(-;-)
Alt	rs80357631(-;-)
Reference	Rs80357631(A;A)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41245072delT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000047851.2, RCV000111872.3,