rs80357758

minus

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

Make rs80357758(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43099793

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357758
dbSNP (classic)	rs80357758
ClinGen	rs80357758
ebi	rs80357758
HLI	rs80357758
Exac	rs80357758
Gnomad	rs80357758
Varsome	rs80357758
LitVar	rs80357758
Map	rs80357758
PheGenI	rs80357758
Biobank	rs80357758
1000 genomes	rs80357758
hgdp	rs80357758
ensembl	rs80357758
geneview	rs80357758
scholar	rs80357758
google	rs80357758
pharmgkb	rs80357758
gwascentral	rs80357758
openSNP	rs80357758
23andMe	rs80357758
SNPshot	rs80357758
SNPdbe	rs80357758
MSV3d	rs80357758
GWAS Ctlg	rs80357758

Max Magnitude

6

rs80357758, also known as 648delT, c.529_529delT and p.Ser177Leufs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357758(-;-)
Alt	rs80357758(-;-)
Reference	Rs80357758(T;T)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41251810delA
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048916.2, RCV000112726.3,