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rs80357921

From SNPedia

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


Make rs80357921(-;-)
ReferenceGRCh38 38.1/142
Chromosome17
Position43091000
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357921
ebirs80357921
HLIrs80357921
Exacrs80357921
Varsomers80357921
Maprs80357921
PheGenIrs80357921
hapmaprs80357921
1000 genomesrs80357921
hgdprs80357921
ensemblrs80357921
gopubmedrs80357921
geneviewrs80357921
scholarrs80357921
googlers80357921
pharmgkbrs80357921
gwascentralrs80357921
openSNPrs80357921
23andMers80357921
23andMe allrs80357921
SNP Nexus

SNPshotrs80357921
SNPdbers80357921
MSV3drs80357921
GWAS Ctlgrs80357921
Max Magnitude6
rs80357921, also known as 4247delAA, c.4128_4129delAA and p.Thr1376_Ser1377ThrArgfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357921(;)
Alt rs80357921(;)
Reference rs80357921(AA;AA)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41243017_41243018delTT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000112267.1, RCV000131892.2,