rs80357608

minus

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

Make rs80357608(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43063923

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357608
dbSNP (classic)	rs80357608
ClinGen	rs80357608
ebi	rs80357608
HLI	rs80357608
Exac	rs80357608
Gnomad	rs80357608
Varsome	rs80357608
LitVar	rs80357608
Map	rs80357608
PheGenI	rs80357608
Biobank	rs80357608
1000 genomes	rs80357608
hgdp	rs80357608
ensembl	rs80357608
geneview	rs80357608
scholar	rs80357608
google	rs80357608
pharmgkb	rs80357608
gwascentral	rs80357608
openSNP	rs80357608
23andMe	rs80357608
SNPshot	rs80357608
SNPdbe	rs80357608
MSV3d	rs80357608
GWAS Ctlg	rs80357608

Max Magnitude

6

rs80357608, also known as 5221delTG, c.5102_5103delTG and p.Leu1701Glnfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357608(-;-)
Alt	rs80357608(-;-)
Reference	Rs80357608(TG;TG)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41215940_41215941delCA
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048795.3, RCV000077596.5,