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rs80357805

From SNPedia

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


Make rs80357805(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091888
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357805
ebirs80357805
HLIrs80357805
Exacrs80357805
Varsomers80357805
Maprs80357805
PheGenIrs80357805
hapmaprs80357805
1000 genomesrs80357805
hgdprs80357805
ensemblrs80357805
gopubmedrs80357805
geneviewrs80357805
scholarrs80357805
googlers80357805
pharmgkbrs80357805
gwascentralrs80357805
openSNPrs80357805
23andMers80357805
23andMe allrs80357805
SNP Nexus

SNPshotrs80357805
SNPdbers80357805
MSV3drs80357805
GWAS Ctlgrs80357805
Max Magnitude6
rs80357805, also known as 3761delGA, c.3642_3643delGA and p.Glu1214_Asn1215GluLeufs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357805(;)
Alt rs80357805(;)
Reference rs80357805(GA;GA)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000017.10:g.41243905_41243906delTC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048268.2, RCV000112144.1, RCV000215002.1,