rs80357691

minus

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

Make rs80357691(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43091006

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357691
dbSNP (classic)	rs80357691
ClinGen	rs80357691
ebi	rs80357691
HLI	rs80357691
Exac	rs80357691
Gnomad	rs80357691
Varsome	rs80357691
LitVar	rs80357691
Map	rs80357691
PheGenI	rs80357691
Biobank	rs80357691
1000 genomes	rs80357691
hgdp	rs80357691
ensembl	rs80357691
geneview	rs80357691
scholar	rs80357691
google	rs80357691
pharmgkb	rs80357691
gwascentral	rs80357691
openSNP	rs80357691
23andMe	rs80357691
SNPshot	rs80357691
SNPdbe	rs80357691
MSV3d	rs80357691
GWAS Ctlg	rs80357691

Max Magnitude

6

rs80357691, also known as 4241delTG, c.4122_4123delTG and p.Ser1374_Glu1375ArgAsnfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357691(-;-)
Alt	rs80357691(-;-)
Reference	Rs80357691(TG;TG)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41243023_41243024delCA
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048451.3, RCV000112265.3,