rs80357813

minus

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

Make rs80357813(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43074431

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357813
dbSNP (classic)	rs80357813
ClinGen	rs80357813
ebi	rs80357813
HLI	rs80357813
Exac	rs80357813
Gnomad	rs80357813
Varsome	rs80357813
LitVar	rs80357813
Map	rs80357813
PheGenI	rs80357813
Biobank	rs80357813
1000 genomes	rs80357813
hgdp	rs80357813
ensembl	rs80357813
geneview	rs80357813
scholar	rs80357813
google	rs80357813
pharmgkb	rs80357813
gwascentral	rs80357813
openSNP	rs80357813
23andMe	rs80357813
SNPshot	rs80357813
SNPdbe	rs80357813
MSV3d	rs80357813
GWAS Ctlg	rs80357813

Max Magnitude

6

rs80357813, also known as 4693delAA, c.4574_4575delAA and p.Gln1525Argfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357813(-;-)
Alt	rs80357813(-;-)
Reference	Rs80357813(AA;AA)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA1
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed	1
HGVS	NC_000017.10:g.41226448_41226449delTT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048595.3, RCV000077576.6, RCV000216673.1,