rs80357735

minus

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

Make rs80357735(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43094001

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357735
dbSNP (old)	rs80357735
ClinGen	rs80357735
ebi	rs80357735
HLI	rs80357735
Exac	rs80357735
Varsome	rs80357735
Map	rs80357735
PheGenI	rs80357735
Biobank	rs80357735
1000 genomes	rs80357735
hgdp	rs80357735
ensembl	rs80357735
gopubmed	rs80357735
geneview	rs80357735
scholar	rs80357735
google	rs80357735
pharmgkb	rs80357735
gwascentral	rs80357735
openSNP	rs80357735
23andMe	rs80357735
23andMe all	rs80357735
SNP Nexus
SNPshot	rs80357735
SNPdbe	rs80357735
MSV3d	rs80357735
GWAS Ctlg	rs80357735

Max Magnitude

6

rs80357735, also known as 1649delA, c.1530_1530delA and p.Ser510=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357735(-;-)
Alt	rs80357735(-;-)
Reference	Rs80357735(A;A)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed	1
HGVS	NC_000017.10:g.41246018delT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000047516.2, RCV000111644.3, RCV000221019.1,