rs80357792

minus

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

Make rs80357792(AG;AG)

Reference

GRCh38 38.1/142

Chromosome

17

Position

43094688

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357792
dbSNP (classic)	rs80357792
ClinGen	rs80357792
ebi	rs80357792
HLI	rs80357792
Exac	rs80357792
Gnomad	rs80357792
Varsome	rs80357792
LitVar	rs80357792
Map	rs80357792
PheGenI	rs80357792
Biobank	rs80357792
1000 genomes	rs80357792
hgdp	rs80357792
ensembl	rs80357792
geneview	rs80357792
scholar	rs80357792
google	rs80357792
pharmgkb	rs80357792
gwascentral	rs80357792
openSNP	rs80357792
23andMe	rs80357792
SNPshot	rs80357792
SNPdbe	rs80357792
MSV3d	rs80357792
GWAS Ctlg	rs80357792

Max Magnitude

6

rs80357792, also known as 961insAG, c.842_843insAG and p.Ser281?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357792(AG;AG)
Alt	rs80357792(AG;AG)
Reference	Rs80357792(-;-)
Significance	Pathogenic
Disease	Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41246706_41246707dupCT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000241107.3,