rs80357785

minus

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

Make rs80357785(T;T)

Reference

GRCh38 38.1/142

Chromosome

17

Position

43092179

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357785
dbSNP (classic)	rs80357785
ClinGen	rs80357785
ebi	rs80357785
HLI	rs80357785
Exac	rs80357785
Gnomad	rs80357785
Varsome	rs80357785
LitVar	rs80357785
Map	rs80357785
PheGenI	rs80357785
Biobank	rs80357785
1000 genomes	rs80357785
hgdp	rs80357785
ensembl	rs80357785
geneview	rs80357785
scholar	rs80357785
google	rs80357785
pharmgkb	rs80357785
gwascentral	rs80357785
openSNP	rs80357785
23andMe	rs80357785
SNPshot	rs80357785
SNPdbe	rs80357785
MSV3d	rs80357785
GWAS Ctlg	rs80357785

Max Magnitude

6

rs80357785, also known as 3470insT, c.3351_3352insT and p.Val1117_Gln1118?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357785(T;T)
Alt	rs80357785(T;T)
Reference	Rs80357785(-;-)
Significance	Pathogenic
Disease	Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41244197dupA
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000112077.3,