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rs80357949

From SNPedia

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


Make rs80357949(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43115747
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357949
ebirs80357949
HLIrs80357949
Exacrs80357949
Varsomers80357949
Maprs80357949
PheGenIrs80357949
hapmaprs80357949
1000 genomesrs80357949
hgdprs80357949
ensemblrs80357949
gopubmedrs80357949
geneviewrs80357949
scholarrs80357949
googlers80357949
pharmgkbrs80357949
gwascentralrs80357949
openSNPrs80357949
23andMers80357949
23andMe allrs80357949
SNP Nexus

SNPshotrs80357949
SNPdbers80357949
MSV3drs80357949
GWAS Ctlgrs80357949
Max Magnitude6
rs80357949, also known as 231delAA, c.112_113delAA and p.Lys38Valfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357949(;)
Alt rs80357949(;)
Reference rs80357949(AA;AA)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41267764_41267765delTT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047355.3, RCV000111790.1,