rs80357528

minus

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

Make rs80357528(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43094238

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357528
dbSNP (classic)	rs80357528
ClinGen	rs80357528
ebi	rs80357528
HLI	rs80357528
Exac	rs80357528
Gnomad	rs80357528
Varsome	rs80357528
LitVar	rs80357528
Map	rs80357528
PheGenI	rs80357528
Biobank	rs80357528
1000 genomes	rs80357528
hgdp	rs80357528
ensembl	rs80357528
geneview	rs80357528
scholar	rs80357528
google	rs80357528
pharmgkb	rs80357528
gwascentral	rs80357528
openSNP	rs80357528
23andMe	rs80357528
SNPshot	rs80357528
SNPdbe	rs80357528
MSV3d	rs80357528
GWAS Ctlg	rs80357528

Max Magnitude

6

rs80357528, also known as 1406insA, c.1287-1288insA and p.Ile429_Asp430?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357528(T;T)
Alt	rs80357528(T;T)
Reference	Rs80357528(-;-)
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.41246256dupA
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000047406.2, RCV000111584.4,