rs80357601

minus

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

Make rs80357601(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43092529

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357601
dbSNP (classic)	rs80357601
ClinGen	rs80357601
ebi	rs80357601
HLI	rs80357601
Exac	rs80357601
Gnomad	rs80357601
Varsome	rs80357601
LitVar	rs80357601
Map	rs80357601
PheGenI	rs80357601
Biobank	rs80357601
1000 genomes	rs80357601
hgdp	rs80357601
ensembl	rs80357601
geneview	rs80357601
scholar	rs80357601
google	rs80357601
pharmgkb	rs80357601
gwascentral	rs80357601
openSNP	rs80357601
23andMe	rs80357601
SNPshot	rs80357601
SNPdbe	rs80357601
MSV3d	rs80357601
GWAS Ctlg	rs80357601

Merged from

Rs80357846

Max Magnitude

6

rs80357601, also known as 3121delA, c.3002_3002delA and p.Glu1001=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357601(-;-)
Alt	rs80357601(-;-)
Reference	Rs80357601(A;A)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome not provided Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome not provided Hereditary cancer-predisposing syndrome
Reversed	1
HGVS	NC_000017.10:g.41244543delT
CLNSRC	Breast Cancer Information Core (BRCA1) OMIM Allelic Variant
CLNACC	RCV000019238.16, RCV000048039.4, RCV000159912.2, RCV000163096.2,