rs80357774

minus

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

Make rs80357774(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43094513

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357774
dbSNP (classic)	rs80357774
ClinGen	rs80357774
ebi	rs80357774
HLI	rs80357774
Exac	rs80357774
Gnomad	rs80357774
Varsome	rs80357774
LitVar	rs80357774
Map	rs80357774
PheGenI	rs80357774
Biobank	rs80357774
1000 genomes	rs80357774
hgdp	rs80357774
ensembl	rs80357774
geneview	rs80357774
scholar	rs80357774
google	rs80357774
pharmgkb	rs80357774
gwascentral	rs80357774
openSNP	rs80357774
23andMe	rs80357774
SNPshot	rs80357774
SNPdbe	rs80357774
MSV3d	rs80357774
GWAS Ctlg	rs80357774

Max Magnitude

6

rs80357774, also known as 1137delG, c.1018_1018delG and p.Val340Terfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357774(-;-)
Alt	rs80357774(-;-)
Reference	Rs80357774(G;G)
Significance	Pathogenic
Disease	Breast-ovarian cancer Familial cancer of breast not provided
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Familial cancer of breast not provided
Reversed	1
HGVS	NC_000017.10:g.41246530delC
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000030968.7, RCV000047311.2, RCV000236511.2,