rs80357597

minus

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

Make rs80357597(G;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43094190

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357597
dbSNP (classic)	rs80357597
ClinGen	rs80357597
ebi	rs80357597
HLI	rs80357597
Exac	rs80357597
Gnomad	rs80357597
Varsome	rs80357597
LitVar	rs80357597
Map	rs80357597
PheGenI	rs80357597
Biobank	rs80357597
1000 genomes	rs80357597
hgdp	rs80357597
ensembl	rs80357597
geneview	rs80357597
scholar	rs80357597
google	rs80357597
pharmgkb	rs80357597
gwascentral	rs80357597
openSNP	rs80357597
23andMe	rs80357597
SNPshot	rs80357597
SNPdbe	rs80357597
MSV3d	rs80357597
GWAS Ctlg	rs80357597

Max Magnitude

6

rs80357597, also known as 1459insG, c.1340_1341insG and p.Val447?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357597(G;G)
Alt	rs80357597(G;G)
Reference	Rs80357597(-;-)
Significance	Pathogenic
Disease	Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41246207_41246208insC
CLNSRC	ClinVar
CLNACC	RCV000111592.3,