rs80357719

minus

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

Make rs80357719(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43094679

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357719
dbSNP (classic)	rs80357719
ClinGen	rs80357719
ebi	rs80357719
HLI	rs80357719
Exac	rs80357719
Gnomad	rs80357719
Varsome	rs80357719
LitVar	rs80357719
Map	rs80357719
PheGenI	rs80357719
Biobank	rs80357719
1000 genomes	rs80357719
hgdp	rs80357719
ensembl	rs80357719
geneview	rs80357719
scholar	rs80357719
google	rs80357719
pharmgkb	rs80357719
gwascentral	rs80357719
openSNP	rs80357719
23andMe	rs80357719
SNPshot	rs80357719
SNPdbe	rs80357719
MSV3d	rs80357719
GWAS Ctlg	rs80357719

Max Magnitude

6

rs80357719, also known as 970delAG, c.851_852delAG and p.Gln284Profs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357719(-;-)
Alt	rs80357719(-;-)
Reference	Rs80357719(AG;AG)
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.41246696_41246697delCT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000049174.2, RCV000112805.2,