rs80356971

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 rs80356971(A;A)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43092133

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80356971
dbSNP (classic)	rs80356971
ClinGen	rs80356971
ebi	rs80356971
HLI	rs80356971
Exac	rs80356971
Gnomad	rs80356971
Varsome	rs80356971
LitVar	rs80356971
Map	rs80356971
PheGenI	rs80356971
Biobank	rs80356971
1000 genomes	rs80356971
hgdp	rs80356971
ensembl	rs80356971
geneview	rs80356971
scholar	rs80356971
google	rs80356971
pharmgkb	rs80356971
gwascentral	rs80356971
openSNP	rs80356971
23andMe	rs80356971
SNPshot	rs80356971
SNPdbe	rs80356971
MSV3d	rs80356971
GWAS Ctlg	rs80356971

Max Magnitude

6

rs80356971, also known as L1133X, c.3398T>A and p.Leu1133Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80356971(A;A) rs80356971(C;C) rs80356971(G;G)
Alt	rs80356971(A;A) rs80356971(C;C) rs80356971(G;G)
Reference	Rs80356971(T;T)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not provided
Reversed	1
HGVS	NC_000017.10:g.41244150A>C; NC_000017.10:g.41244150A>G; NC_000017.10:g.41244150A>T
CLNSRC	ClinVar
CLNACC	RCV000048177.2, RCV000162045.3, RCV000219552.1, RCV000048176.2, RCV000112086.2, RCV000236540.1,