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rs80357960

From SNPedia

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


Make rs80357960(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093268
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357960
ebirs80357960
HLIrs80357960
Exacrs80357960
Varsomers80357960
Maprs80357960
PheGenIrs80357960
hapmaprs80357960
1000 genomesrs80357960
hgdprs80357960
ensemblrs80357960
gopubmedrs80357960
geneviewrs80357960
scholarrs80357960
googlers80357960
pharmgkbrs80357960
gwascentralrs80357960
openSNPrs80357960
23andMers80357960
23andMe allrs80357960
SNP Nexus

SNPshotrs80357960
SNPdbers80357960
MSV3drs80357960
GWAS Ctlgrs80357960
Max Magnitude6
rs80357960, also known as 2382delG, c.2263_2263delG and p.Glu755Lysfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357960(;)
Alt rs80357960(;)
Reference rs80357960(G;G)
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.41245285delC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047777.2, RCV000111811.2,