rs80357610

minus

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

Make rs80357610(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43094550

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357610
dbSNP (classic)	rs80357610
ClinGen	rs80357610
ebi	rs80357610
HLI	rs80357610
Exac	rs80357610
Gnomad	rs80357610
Varsome	rs80357610
LitVar	rs80357610
Map	rs80357610
PheGenI	rs80357610
Biobank	rs80357610
1000 genomes	rs80357610
hgdp	rs80357610
ensembl	rs80357610
geneview	rs80357610
scholar	rs80357610
google	rs80357610
pharmgkb	rs80357610
gwascentral	rs80357610
openSNP	rs80357610
23andMe	rs80357610
SNPshot	rs80357610
SNPdbe	rs80357610
MSV3d	rs80357610
GWAS Ctlg	rs80357610

Max Magnitude

6

rs80357610, also known as 1099delCA, c.980_981delCA and p.Thr327Metfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357610(-;-)
Alt	rs80357610(-;-)
Reference	Rs80357610(CA;CA)
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.41246567_41246568delTG
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000049209.2, RCV000111519.2,