rs80356866

Orientation

minus

Stabilized

minus

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

Make rs80356866(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43091690

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80356866
dbSNP (classic)	rs80356866
ClinGen	rs80356866
ebi	rs80356866
HLI	rs80356866
Exac	rs80356866
Gnomad	rs80356866
Varsome	rs80356866
LitVar	rs80356866
Map	rs80356866
PheGenI	rs80356866
Biobank	rs80356866
1000 genomes	rs80356866
hgdp	rs80356866
ensembl	rs80356866
geneview	rs80356866
scholar	rs80356866
google	rs80356866
pharmgkb	rs80356866
gwascentral	rs80356866
openSNP	rs80356866
23andMe	rs80356866
SNPshot	rs80356866
SNPdbe	rs80356866
MSV3d	rs80356866
GWAS Ctlg	rs80356866

Max Magnitude

6

rs80356866, also known as Q1281X, c.3841C>T and p.Gln1281Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

23andMe name: i5010140

ClinVar
Risk	rs80356866(G;G) rs80356866(T;T)
Alt	rs80356866(G;G) rs80356866(T;T)
Reference	Rs80356866(C;C)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided not specified
Variation	info
Gene	BRCA1
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not provided not specified
Reversed	1
HGVS	NC_000017.10:g.41243707G>A; NC_000017.10:g.41243707G>C
CLNSRC	ClinVar
CLNACC	RCV000048350.3, RCV000112195.3, RCV000162868.2, RCV000254889.1, RCV000482543.1,