rs80357530

minus

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

Make rs80357530(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43124057

Gene	BRCA1, NBR2

is a	snp
is	mentioned by
dbSNP	rs80357530
dbSNP (classic)	rs80357530
ClinGen	rs80357530
ebi	rs80357530
HLI	rs80357530
Exac	rs80357530
Gnomad	rs80357530
Varsome	rs80357530
LitVar	rs80357530
Map	rs80357530
PheGenI	rs80357530
Biobank	rs80357530
1000 genomes	rs80357530
hgdp	rs80357530
ensembl	rs80357530
geneview	rs80357530
scholar	rs80357530
google	rs80357530
pharmgkb	rs80357530
gwascentral	rs80357530
openSNP	rs80357530
23andMe	rs80357530
SNPshot	rs80357530
SNPdbe	rs80357530
MSV3d	rs80357530
GWAS Ctlg	rs80357530

Max Magnitude

6

rs80357530, also known as 156del4, c.37_40delAATG and p.Asn13_Val14?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357530(-;-)
Alt	rs80357530(-;-)
Reference	Rs80357530(AATG;AATG)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation	info
Gene	NBR2 BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed	1
HGVS	NC_000017.10:g.41276074_41276077delCATT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048337.2, RCV000111621.2, RCV000162865.1,