rs80357830

minus

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

Make rs80357830(A;A)

Reference

GRCh38 38.1/142

Chromosome

17

Position

43093056

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357830
dbSNP (classic)	rs80357830
ClinGen	rs80357830
ebi	rs80357830
HLI	rs80357830
Exac	rs80357830
Gnomad	rs80357830
Varsome	rs80357830
LitVar	rs80357830
Map	rs80357830
PheGenI	rs80357830
Biobank	rs80357830
1000 genomes	rs80357830
hgdp	rs80357830
ensembl	rs80357830
geneview	rs80357830
scholar	rs80357830
google	rs80357830
pharmgkb	rs80357830
gwascentral	rs80357830
openSNP	rs80357830
23andMe	rs80357830
SNPshot	rs80357830
SNPdbe	rs80357830
MSV3d	rs80357830
GWAS Ctlg	rs80357830

Max Magnitude

6

rs80357830, also known as 2593insA, c.2474_2475insA and p.Asp825?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357830(A;A)
Alt	rs80357830(A;A)
Reference	Rs80357830(-;-)
Significance	Pathogenic
Disease	Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41245074dupT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000111871.3,