rs80357908

minus

Geno	Mag	Summary
(-;C)	6	BRCA1 variant considered pathogenic for breast cancer
(C;C)	0	Normal

Make rs80357908(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43094021

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357908
dbSNP (classic)	rs80357908
ClinGen	rs80357908
ebi	rs80357908
HLI	rs80357908
Exac	rs80357908
Gnomad	rs80357908
Varsome	rs80357908
LitVar	rs80357908
Map	rs80357908
PheGenI	rs80357908
Biobank	rs80357908
1000 genomes	rs80357908
hgdp	rs80357908
ensembl	rs80357908
geneview	rs80357908
scholar	rs80357908
google	rs80357908
pharmgkb	rs80357908
gwascentral	rs80357908
openSNP	rs80357908
23andMe	rs80357908
SNPshot	rs80357908
SNPdbe	rs80357908
MSV3d	rs80357908
GWAS Ctlg	rs80357908

Max Magnitude

6

rs80357908, also known as 1629delC, c.1510_1510delC and p.Arg504Valfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357908(-;-)
Alt	rs80357908(-;-)
Reference	Rs80357908(C;C)
Significance	Pathogenic
Disease	Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Familial cancer of breast Hereditary cancer-predisposing syndrome
Reversed	1
HGVS	NC_000017.10:g.41246038delG
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000030999.6, RCV000047506.2, RCV000130024.2,