rs80357716

minus

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

Make rs80357716(G;G)

Reference

GRCh38 38.1/142

Chromosome

17

Position

43082475

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357716
dbSNP (classic)	rs80357716
ClinGen	rs80357716
ebi	rs80357716
HLI	rs80357716
Exac	rs80357716
Gnomad	rs80357716
Varsome	rs80357716
LitVar	rs80357716
Map	rs80357716
PheGenI	rs80357716
Biobank	rs80357716
1000 genomes	rs80357716
hgdp	rs80357716
ensembl	rs80357716
geneview	rs80357716
scholar	rs80357716
google	rs80357716
pharmgkb	rs80357716
gwascentral	rs80357716
openSNP	rs80357716
23andMe	rs80357716
SNPshot	rs80357716
SNPdbe	rs80357716
MSV3d	rs80357716
GWAS Ctlg	rs80357716

Max Magnitude

6

rs80357716, also known as 4404insG, c.4285_4286insG and p.Tyr1429?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357716(G;G) rs80357716(T;T)
Alt	rs80357716(G;G) rs80357716(T;T)
Reference	Rs80357716(-;-)
Significance	Pathogenic
Disease	Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41234492_41234493insC; NC_000017.10:g.41234493dupA
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000112307.2, RCV000256628.2,