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rs80357780

From SNPedia

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


Make rs80357780(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093234
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357780
ebirs80357780
HLIrs80357780
Exacrs80357780
Varsomers80357780
Maprs80357780
PheGenIrs80357780
hapmaprs80357780
1000 genomesrs80357780
hgdprs80357780
ensemblrs80357780
gopubmedrs80357780
geneviewrs80357780
scholarrs80357780
googlers80357780
pharmgkbrs80357780
gwascentralrs80357780
openSNPrs80357780
23andMers80357780
23andMe allrs80357780
SNP Nexus

SNPshotrs80357780
SNPdbers80357780
MSV3drs80357780
GWAS Ctlgrs80357780
Max Magnitude6
rs80357780, also known as 2415delAG, c.2296_2297delAG and p.Ser766Terfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
OMIM113705
Desc
Variant0007
Relatedalso
ClinVar
Risk rs80357780(;)
Alt rs80357780(;)
Reference rs80357780(AG;AG)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Familial cancer of breast Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000017.10:g.41245251_41245252delCT
CLNSRC Breast Cancer Information Core (BRCA1) OMIM Allelic Variant
CLNACC RCV000019235.5, RCV000047787.2, RCV000214000.1,