rs80357542

minus

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

Make rs80357542(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43074380

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357542
dbSNP (old)	rs80357542
ClinGen	rs80357542
ebi	rs80357542
HLI	rs80357542
Exac	rs80357542
Varsome	rs80357542
Map	rs80357542
PheGenI	rs80357542
Biobank	rs80357542
1000 genomes	rs80357542
hgdp	rs80357542
ensembl	rs80357542
gopubmed	rs80357542
geneview	rs80357542
scholar	rs80357542
google	rs80357542
pharmgkb	rs80357542
gwascentral	rs80357542
openSNP	rs80357542
23andMe	rs80357542
23andMe all	rs80357542
SNP Nexus
SNPshot	rs80357542
SNPdbe	rs80357542
MSV3d	rs80357542
GWAS Ctlg	rs80357542

Max Magnitude

6

rs80357542, also known as 4744delCT, c.4625_4626delCT and p.Ser1542Trpfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357542(-;-)
Alt	rs80357542(-;-)
Reference	Rs80357542(CT;CT)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer not provided
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1 not provided
Reversed	1
HGVS	NC_000017.10:g.41226397_41226398delAG
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048610.2, RCV000112367.3, RCV000236865.1,