rs80357086

Orientation

minus

Stabilized

minus

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

Make rs80357086(A;A)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43106480

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357086
dbSNP (classic)	rs80357086
ClinGen	rs80357086
ebi	rs80357086
HLI	rs80357086
Exac	rs80357086
Gnomad	rs80357086
Varsome	rs80357086
LitVar	rs80357086
Map	rs80357086
PheGenI	rs80357086
Biobank	rs80357086
1000 genomes	rs80357086
hgdp	rs80357086
ensembl	rs80357086
geneview	rs80357086
scholar	rs80357086
google	rs80357086
pharmgkb	rs80357086
gwascentral	rs80357086
openSNP	rs80357086
23andMe	rs80357086
SNPshot	rs80357086
SNPdbe	rs80357086
MSV3d	rs80357086
GWAS Ctlg	rs80357086

Max Magnitude

6

rs80357086, also known as L63X, c.188T>A and p.Leu63Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357086(A;A) rs80357086(C;C)
Alt	rs80357086(A;A) rs80357086(C;C)
Reference	Rs80357086(T;T)
Significance	Pathogenic
Disease	Familial cancer of breast Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome Neoplasm of breast not provided
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome Neoplasm of breast not provided
Reversed	1
HGVS	NC_000017.10:g.41258497A>G; NC_000017.10:g.41258497A>T
CLNSRC	ClinVar
CLNACC	RCV000047621.2, RCV000047620.3, RCV000077499.7, RCV000162847.2, RCV000413802.1, RCV000478996.1,