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rs80357747

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;GT) 6 BRCA1 variant considered pathogenic for breast cancer
(GT;GT) 0 Normal


Make rs80357747(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094833
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357747
ebirs80357747
HLIrs80357747
Exacrs80357747
Varsomers80357747
Maprs80357747
PheGenIrs80357747
hapmaprs80357747
1000 genomesrs80357747
hgdprs80357747
ensemblrs80357747
gopubmedrs80357747
geneviewrs80357747
scholarrs80357747
googlers80357747
pharmgkbrs80357747
gwascentralrs80357747
openSNPrs80357747
23andMers80357747
23andMe allrs80357747
SNP Nexus

SNPshotrs80357747
SNPdbers80357747
MSV3drs80357747
GWAS Ctlgrs80357747
Max Magnitude6
rs80357747, also known as 816delGT, c.697_698delGT and p.Val233Asnfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357747(;)
Alt rs80357747(;)
Reference rs80357747(GT;GT)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41246850_41246851delAC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000031276.5, RCV000049102.3, RCV000131861.2,