rs80357145

Orientation

minus

Stabilized

minus

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

Make rs80357145(A;A)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43092292

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357145
dbSNP (classic)	rs80357145
ClinGen	rs80357145
ebi	rs80357145
HLI	rs80357145
Exac	rs80357145
Gnomad	rs80357145
Varsome	rs80357145
LitVar	rs80357145
Map	rs80357145
PheGenI	rs80357145
Biobank	rs80357145
1000 genomes	rs80357145
hgdp	rs80357145
ensembl	rs80357145
geneview	rs80357145
scholar	rs80357145
google	rs80357145
pharmgkb	rs80357145
gwascentral	rs80357145
openSNP	rs80357145
23andMe	rs80357145
SNPshot	rs80357145
SNPdbe	rs80357145
MSV3d	rs80357145
GWAS Ctlg	rs80357145

Max Magnitude

6

rs80357145, also known as L1080X, c.3239T>A and p.Leu1080Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357145(A;A)
Alt	rs80357145(A;A)
Reference	Rs80357145(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.41244309A>T
CLNSRC	ClinVar
CLNACC	RCV000048108.2, RCV000112034.3,