rs80357612

minus

Geno	Mag	Summary
(-;C)	6	BRCA1 variant considered pathogenic for breast cancer
(C;C)	0	Normal

Make rs80357612(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43094410

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357612
dbSNP (classic)	rs80357612
ClinGen	rs80357612
ebi	rs80357612
HLI	rs80357612
Exac	rs80357612
Gnomad	rs80357612
Varsome	rs80357612
LitVar	rs80357612
Map	rs80357612
PheGenI	rs80357612
Biobank	rs80357612
1000 genomes	rs80357612
hgdp	rs80357612
ensembl	rs80357612
geneview	rs80357612
scholar	rs80357612
google	rs80357612
pharmgkb	rs80357612
gwascentral	rs80357612
openSNP	rs80357612
23andMe	rs80357612
SNPshot	rs80357612
SNPdbe	rs80357612
MSV3d	rs80357612
GWAS Ctlg	rs80357612

Max Magnitude

6

rs80357612, also known as 1240delC, c.1121_1121delC and p.Thr374Asnfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357612(-;-)
Alt	rs80357612(-;-)
Reference	Rs80357612(C;C)
Significance	Pathogenic
Disease	Breast-ovarian cancer Familial cancer of breast
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Familial cancer of breast
Reversed	1
HGVS	NC_000017.10:g.41246427delG
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000030972.6, RCV000047351.2,