rs80357899

minus

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

Make rs80357899(-;-)

Reference

GRCh38 38.1/142

Chromosome

17

Position

43092830

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357899
dbSNP (classic)	rs80357899
ClinGen	rs80357899
ebi	rs80357899
HLI	rs80357899
Exac	rs80357899
Gnomad	rs80357899
Varsome	rs80357899
LitVar	rs80357899
Map	rs80357899
PheGenI	rs80357899
Biobank	rs80357899
1000 genomes	rs80357899
hgdp	rs80357899
ensembl	rs80357899
geneview	rs80357899
scholar	rs80357899
google	rs80357899
pharmgkb	rs80357899
gwascentral	rs80357899
openSNP	rs80357899
23andMe	rs80357899
SNPshot	rs80357899
SNPdbe	rs80357899
MSV3d	rs80357899
GWAS Ctlg	rs80357899

Merged from

Rs397509001

Max Magnitude

6

rs80357899, also known as 2819delTT, c.2700_2701delTT and p.Thr900_Phe901ThrTerfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357899(-;-)
Alt	rs80357899(-;-)
Reference	Rs80357899(TT;TT)
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.41244845_41244846delAA
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000047938.2, RCV000111921.3,