rs80357981

minus

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

Make rs80357981(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43082518

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357981
dbSNP (classic)	rs80357981
ClinGen	rs80357981
ebi	rs80357981
HLI	rs80357981
Exac	rs80357981
Gnomad	rs80357981
Varsome	rs80357981
LitVar	rs80357981
Map	rs80357981
PheGenI	rs80357981
Biobank	rs80357981
1000 genomes	rs80357981
hgdp	rs80357981
ensembl	rs80357981
geneview	rs80357981
scholar	rs80357981
google	rs80357981
pharmgkb	rs80357981
gwascentral	rs80357981
openSNP	rs80357981
23andMe	rs80357981
SNPshot	rs80357981
SNPdbe	rs80357981
MSV3d	rs80357981
GWAS Ctlg	rs80357981

Max Magnitude

6

rs80357981, also known as 4362delG, c.4243_4243delG and p.Glu1415Lysfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357981(-;-)
Alt	rs80357981(-;-)
Reference	Rs80357981(G;G)
Significance	Pathogenic
Disease	Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Familial cancer of breast Hereditary cancer-predisposing syndrome not provided
Reversed	1
HGVS	NC_000017.10:g.41234535delC
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000031159.6, RCV000048498.2, RCV000217565.1, RCV000482127.1,