rs80357759

minus

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

Make rs80357759(-;-)

Make rs80357759(TG;TG)

Reference

GRCh38 38.1/142

Chromosome

17

Position

43094636

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357759
dbSNP (classic)	rs80357759
ClinGen	rs80357759
ebi	rs80357759
HLI	rs80357759
Exac	rs80357759
Gnomad	rs80357759
Varsome	rs80357759
LitVar	rs80357759
Map	rs80357759
PheGenI	rs80357759
Biobank	rs80357759
1000 genomes	rs80357759
hgdp	rs80357759
ensembl	rs80357759
geneview	rs80357759
scholar	rs80357759
google	rs80357759
pharmgkb	rs80357759
gwascentral	rs80357759
openSNP	rs80357759
23andMe	rs80357759
SNPshot	rs80357759
SNPdbe	rs80357759
MSV3d	rs80357759
GWAS Ctlg	rs80357759

Status

Merged into rs80357670

Max Magnitude

6

rs80357759, also known as 1013delTG, c.894_895delTG and p.Asn298_Val299AsnArgfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk
Alt
Reference	Rs80357759(GT;GT)
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.41246652_41246653delAC
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000049179.3, RCV000111504.6,