rs273902792

Orientation

minus

Stabilized

minus

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

Make rs273902792(A;A)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43094683

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs273902792
dbSNP (classic)	rs273902792
ClinGen	rs273902792
ebi	rs273902792
HLI	rs273902792
Exac	rs273902792
Gnomad	rs273902792
Varsome	rs273902792
LitVar	rs273902792
Map	rs273902792
PheGenI	rs273902792
Biobank	rs273902792
1000 genomes	rs273902792
hgdp	rs273902792
ensembl	rs273902792
geneview	rs273902792
scholar	rs273902792
google	rs273902792
pharmgkb	rs273902792
gwascentral	rs273902792
openSNP	rs273902792
23andMe	rs273902792
SNPshot	rs273902792
SNPdbe	rs273902792
MSV3d	rs273902792
GWAS Ctlg	rs273902792

Max Magnitude

6

rs273902792, also known as L283X, c.848T>A and p.Leu283Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs273902792(A;A) rs273902792(G;G)
Alt	rs273902792(A;A) rs273902792(G;G)
Reference	Rs273902792(T;T)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41246700A>C; NC_000017.10:g.41246700A>T
CLNSRC	ClinVar
CLNACC	RCV000049171.2, RCV000238812.2, RCV000049170.2, RCV000112802.3,