rs80357253

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common/normal
(A;T)	6	BRCA1 mutation considered pathogenic for breast cancer

Make rs80357253(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

43094309

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357253
dbSNP (classic)	rs80357253
ClinGen	rs80357253
ebi	rs80357253
HLI	rs80357253
Exac	rs80357253
Gnomad	rs80357253
Varsome	rs80357253
LitVar	rs80357253
Map	rs80357253
PheGenI	rs80357253
Biobank	rs80357253
1000 genomes	rs80357253
hgdp	rs80357253
ensembl	rs80357253
geneview	rs80357253
scholar	rs80357253
google	rs80357253
pharmgkb	rs80357253
gwascentral	rs80357253
openSNP	rs80357253
23andMe	rs80357253
SNPshot	rs80357253
SNPdbe	rs80357253
MSV3d	rs80357253
GWAS Ctlg	rs80357253

Max Magnitude

6

BRCA1, c.1222A>T (p.Lys408Ter)

ClinVar
Risk	rs80357253(G;G) rs80357253(T;T)
Alt	rs80357253(G;G) rs80357253(T;T)
Reference	Rs80357253(A;A)
Significance	Other
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified
Reversed	1
HGVS	NC_000017.10:g.41246326T>A; NC_000017.10:g.41246326T>C
CLNSRC
CLNACC	RCV000256923.2, RCV000030980.5, RCV000047382.3, RCV000130521.2, RCV000426822.1,