rs80357824

minus

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

Make rs80357824(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43094846

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357824
dbSNP (classic)	rs80357824
ClinGen	rs80357824
ebi	rs80357824
HLI	rs80357824
Exac	rs80357824
Gnomad	rs80357824
Varsome	rs80357824
LitVar	rs80357824
Map	rs80357824
PheGenI	rs80357824
Biobank	rs80357824
1000 genomes	rs80357824
hgdp	rs80357824
ensembl	rs80357824
geneview	rs80357824
scholar	rs80357824
google	rs80357824
pharmgkb	rs80357824
gwascentral	rs80357824
openSNP	rs80357824
23andMe	rs80357824
SNPshot	rs80357824
SNPdbe	rs80357824
MSV3d	rs80357824
GWAS Ctlg	rs80357824

Max Magnitude

6

rs80357824, also known as 804delT, c.685_685delT and p.Ser229Leufs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357824(-;-)
Alt	rs80357824(-;-)
Reference	Rs80357824(T;T)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer not provided
Variation	info
Gene	BRCA1
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 not provided
Reversed	1
HGVS	NC_000017.10:g.41246863delA
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000049094.4, RCV000112771.3, RCV000486620.1,