rs80357916

minus

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

Make rs80357916(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43076581

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357916
dbSNP (classic)	rs80357916
ClinGen	rs80357916
ebi	rs80357916
HLI	rs80357916
Exac	rs80357916
Gnomad	rs80357916
Varsome	rs80357916
LitVar	rs80357916
Map	rs80357916
PheGenI	rs80357916
Biobank	rs80357916
1000 genomes	rs80357916
hgdp	rs80357916
ensembl	rs80357916
geneview	rs80357916
scholar	rs80357916
google	rs80357916
pharmgkb	rs80357916
gwascentral	rs80357916
openSNP	rs80357916
23andMe	rs80357916
SNPshot	rs80357916
SNPdbe	rs80357916
MSV3d	rs80357916
GWAS Ctlg	rs80357916

Max Magnitude

6

rs80357916, also known as 4510delC, c.4391_4391delC and p.Pro1464Leufs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357916(-;-)
Alt	rs80357916(-;-)
Reference	Rs80357916(C;C)
Significance	Pathogenic
Disease	Breast-ovarian cancer Familial cancer of breast
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Familial cancer of breast
Reversed	1
HGVS	NC_000017.10:g.41228598delG
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000031170.6, RCV000048547.2,