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rs80357617

From SNPedia

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


Make rs80357617(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092522
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357617
ebirs80357617
HLIrs80357617
Exacrs80357617
Varsomers80357617
Maprs80357617
PheGenIrs80357617
hapmaprs80357617
1000 genomesrs80357617
hgdprs80357617
ensemblrs80357617
gopubmedrs80357617
geneviewrs80357617
scholarrs80357617
googlers80357617
pharmgkbrs80357617
gwascentralrs80357617
openSNPrs80357617
23andMers80357617
23andMe allrs80357617
SNP Nexus

SNPshotrs80357617
SNPdbers80357617
MSV3drs80357617
GWAS Ctlgrs80357617
Max Magnitude6
rs80357617, also known as 3127delTT, c.3008_3009delTT and p.Phe1003Terfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357617(;)
Alt rs80357617(;)
Reference rs80357617(TT;TT)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome not specified
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not specified
Reversed 1
HGVS NC_000017.10:g.41244539_41244540delAA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048040.2, RCV000077532.3, RCV000131913.2, RCV000239209.1,