rs80357689

minus

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

Make rs80357689(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43094601

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357689
dbSNP (classic)	rs80357689
ClinGen	rs80357689
ebi	rs80357689
HLI	rs80357689
Exac	rs80357689
Gnomad	rs80357689
Varsome	rs80357689
LitVar	rs80357689
Map	rs80357689
PheGenI	rs80357689
Biobank	rs80357689
1000 genomes	rs80357689
hgdp	rs80357689
ensembl	rs80357689
geneview	rs80357689
scholar	rs80357689
google	rs80357689
pharmgkb	rs80357689
gwascentral	rs80357689
openSNP	rs80357689
23andMe	rs80357689
SNPshot	rs80357689
SNPdbe	rs80357689
MSV3d	rs80357689
GWAS Ctlg	rs80357689

Max Magnitude

6

rs80357689, also known as 1049delG, c.930_930delG and p.Gln310Hisfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357689(-;-)
Alt	rs80357689(-;-)
Reference	Rs80357689(G;G)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer not provided
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1 not provided
Reversed	1
HGVS	NC_000017.10:g.41246618delC
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000049195.2, RCV000111513.3, RCV000480588.1,