rs80357699

minus

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

Make rs80357699(CT;CT)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43074410

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357699
dbSNP (classic)	rs80357699
ClinGen	rs80357699
ebi	rs80357699
HLI	rs80357699
Exac	rs80357699
Gnomad	rs80357699
Varsome	rs80357699
LitVar	rs80357699
Map	rs80357699
PheGenI	rs80357699
Biobank	rs80357699
1000 genomes	rs80357699
hgdp	rs80357699
ensembl	rs80357699
geneview	rs80357699
scholar	rs80357699
google	rs80357699
pharmgkb	rs80357699
gwascentral	rs80357699
openSNP	rs80357699
23andMe	rs80357699
SNPshot	rs80357699
SNPdbe	rs80357699
MSV3d	rs80357699
GWAS Ctlg	rs80357699

Merged from

Rs80357826

Max Magnitude

6

rs80357699, also known as 4714insCT, c.4595_4596insCT and p.Val1532?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357699(TC;TC) rs80357699(CT;CT)
Alt	rs80357699(TC;TC) rs80357699(CT;CT)
Reference	Rs80357699(-;-)
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.41226427_41226428insAG
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048601.2, RCV000112361.3,