rs80357618

minus

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

Make rs80357618(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43094515

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357618
dbSNP (classic)	rs80357618
ClinGen	rs80357618
ebi	rs80357618
HLI	rs80357618
Exac	rs80357618
Gnomad	rs80357618
Varsome	rs80357618
LitVar	rs80357618
Map	rs80357618
PheGenI	rs80357618
Biobank	rs80357618
1000 genomes	rs80357618
hgdp	rs80357618
ensembl	rs80357618
geneview	rs80357618
scholar	rs80357618
google	rs80357618
pharmgkb	rs80357618
gwascentral	rs80357618
openSNP	rs80357618
23andMe	rs80357618
SNPshot	rs80357618
SNPdbe	rs80357618
MSV3d	rs80357618
GWAS Ctlg	rs80357618

Merged from

Rs80357911

Max Magnitude

6

rs80357618, also known as 1135delA, c.1016_1016delA and p.Lys339Argfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357618(-;-)
Alt	rs80357618(-;-)
Reference	Rs80357618(A;A)
Significance	Pathogenic
Disease	Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Familial cancer of breast Hereditary cancer-predisposing syndrome
Reversed	1
HGVS	NC_000017.10:g.41246532delT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000030967.9, RCV000047309.2, RCV000222143.1,