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rs80357724

From SNPedia

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


Make rs80357724(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094732
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357724
ebirs80357724
HLIrs80357724
Exacrs80357724
Varsomers80357724
Maprs80357724
PheGenIrs80357724
hapmaprs80357724
1000 genomesrs80357724
hgdprs80357724
ensemblrs80357724
gopubmedrs80357724
geneviewrs80357724
scholarrs80357724
googlers80357724
pharmgkbrs80357724
gwascentralrs80357724
openSNPrs80357724
23andMers80357724
23andMe allrs80357724
SNP Nexus

SNPshotrs80357724
SNPdbers80357724
MSV3drs80357724
GWAS Ctlgrs80357724
Max Magnitude6
rs80357724, also known as 917delTT, c.798_799delTT and p.Val266_Ser267ValLysfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357724(;)
Alt rs80357724(;)
Reference rs80357724(TT;TT)
Significance Pathogenic
Disease Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed 1
HGVS NC_000017.10:g.41246749_41246750delAA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000031279.7, RCV000049141.5, RCV000131867.2, RCV000167858.1,