rs80357318

Orientation

minus

Stabilized

minus

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

Make rs80357318(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43091594

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357318
dbSNP (classic)	rs80357318
ClinGen	rs80357318
ebi	rs80357318
HLI	rs80357318
Exac	rs80357318
Gnomad	rs80357318
Varsome	rs80357318
LitVar	rs80357318
Map	rs80357318
PheGenI	rs80357318
Biobank	rs80357318
1000 genomes	rs80357318
hgdp	rs80357318
ensembl	rs80357318
geneview	rs80357318
scholar	rs80357318
google	rs80357318
pharmgkb	rs80357318
gwascentral	rs80357318
openSNP	rs80357318
23andMe	rs80357318
SNPshot	rs80357318
SNPdbe	rs80357318
MSV3d	rs80357318
GWAS Ctlg	rs80357318

Max Magnitude

6

rs80357318, also known as Q1313X, c.3937C>T and p.Gln1313Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

23andMe name: i5010136

ClinVar
Risk	rs80357318(T;T)
Alt	rs80357318(T;T)
Reference	Rs80357318(C;C)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Reversed	1
HGVS	NC_000017.10:g.41243611G>A
CLNSRC	Ambry Genetics ClinVar
CLNACC	RCV000031137.6, RCV000048386.3, RCV000131882.2, RCV000482757.1,