rs80357536

Orientation

minus

Stabilized

minus

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

Make rs80357536(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

17

Position

43124026

Gene	BRCA1, NBR2

is a	snp
is	mentioned by
dbSNP	rs80357536
dbSNP (classic)	rs80357536
ClinGen	rs80357536
ebi	rs80357536
HLI	rs80357536
Exac	rs80357536
Gnomad	rs80357536
Varsome	rs80357536
LitVar	rs80357536
Map	rs80357536
PheGenI	rs80357536
Biobank	rs80357536
1000 genomes	rs80357536
hgdp	rs80357536
ensembl	rs80357536
geneview	rs80357536
scholar	rs80357536
google	rs80357536
pharmgkb	rs80357536
gwascentral	rs80357536
openSNP	rs80357536
23andMe	rs80357536
SNPshot	rs80357536
SNPdbe	rs80357536
MSV3d	rs80357536
GWAS Ctlg	rs80357536

Max Magnitude

6

rs80357536, also known as 189insA, c.70_71insA and p.Cys24?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357536(A;A) rs80357536(TGTC;TGTC)
Alt	rs80357536(A;A) rs80357536(TGTC;TGTC)
Reference	Rs80357536(-;-)
Significance	Pathogenic
Disease	Breast-ovarian cancer
Variation	info
Gene	NBR2 BRCA1
CLNDBN	Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41276043_41276044insGACA; NC_000017.10:g.41276043_41276044insT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000111681.2, RCV000111680.2,