rs80356864

Orientation

minus

Stabilized

minus

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

Make rs80356864(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43106508

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80356864
dbSNP (classic)	rs80356864
ClinGen	rs80356864
ebi	rs80356864
HLI	rs80356864
Exac	rs80356864
Gnomad	rs80356864
Varsome	rs80356864
LitVar	rs80356864
Map	rs80356864
PheGenI	rs80356864
Biobank	rs80356864
1000 genomes	rs80356864
hgdp	rs80356864
ensembl	rs80356864
geneview	rs80356864
scholar	rs80356864
google	rs80356864
pharmgkb	rs80356864
gwascentral	rs80356864
openSNP	rs80356864
23andMe	rs80356864
SNPshot	rs80356864
SNPdbe	rs80356864
MSV3d	rs80356864
GWAS Ctlg	rs80356864

Max Magnitude

6

rs80356864, also known as Q54X, c.160C>T and p.Gln54Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80356864(A;A) rs80356864(T;T)
Alt	rs80356864(A;A) rs80356864(T;T)
Reference	Rs80356864(C;C)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed	1
HGVS	NC_000017.10:g.41258525G>A; NC_000017.10:g.41258525G>T
CLNSRC	Ambry Genetics ClinVar
CLNACC	RCV000047539.2, RCV000111916.3, RCV000131840.2, RCV000077076.2,