rs80357672

minus

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

Make rs80357672(A;A)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43067610

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357672
dbSNP (classic)	rs80357672
ClinGen	rs80357672
ebi	rs80357672
HLI	rs80357672
Exac	rs80357672
Gnomad	rs80357672
Varsome	rs80357672
LitVar	rs80357672
Map	rs80357672
PheGenI	rs80357672
Biobank	rs80357672
1000 genomes	rs80357672
hgdp	rs80357672
ensembl	rs80357672
geneview	rs80357672
scholar	rs80357672
google	rs80357672
pharmgkb	rs80357672
gwascentral	rs80357672
openSNP	rs80357672
23andMe	rs80357672
SNPshot	rs80357672
SNPdbe	rs80357672
MSV3d	rs80357672
GWAS Ctlg	rs80357672

Max Magnitude

6

rs80357672, also known as 5190insA, c.5071_5072insA and p.Thr1691?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357672(A;A)
Alt	rs80357672(A;A)
Reference	Rs80357672(-;-)
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.41219628dupT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048759.2, RCV000112481.3,