rs80357544

minus

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

Make rs80357544(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43104242

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357544
dbSNP (classic)	rs80357544
ClinGen	rs80357544
ebi	rs80357544
HLI	rs80357544
Exac	rs80357544
Gnomad	rs80357544
Varsome	rs80357544
LitVar	rs80357544
Map	rs80357544
PheGenI	rs80357544
Biobank	rs80357544
1000 genomes	rs80357544
hgdp	rs80357544
ensembl	rs80357544
geneview	rs80357544
scholar	rs80357544
google	rs80357544
pharmgkb	rs80357544
gwascentral	rs80357544
openSNP	rs80357544
23andMe	rs80357544
SNPshot	rs80357544
SNPdbe	rs80357544
MSV3d	rs80357544
GWAS Ctlg	rs80357544

Max Magnitude

6

rs80357544, also known as 440delT, c.321_321delT and p.Phe107Leufs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357544(-;-)
Alt	rs80357544(-;-)
Reference	Rs80357544(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.41256259delA
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048102.2, RCV000112310.3,