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rs276174918

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AACA;AACA) 0 common in clinvar
(AACA;TT) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs276174918(TT;TT)
ReferenceGRCh38 38.1/141
Chromosome13
Position32380141
GeneBRCA2
is asnp
is mentioned by
dbSNPrs276174918
ebirs276174918
HLIrs276174918
Exacrs276174918
Varsomers276174918
Maprs276174918
PheGenIrs276174918
hapmaprs276174918
1000 genomesrs276174918
hgdprs276174918
ensemblrs276174918
gopubmedrs276174918
geneviewrs276174918
scholarrs276174918
googlers276174918
pharmgkbrs276174918
gwascentralrs276174918
openSNPrs276174918
23andMers276174918
23andMe allrs276174918
SNP Nexus

SNPshotrs276174918
SNPdbers276174918
MSV3drs276174918
GWAS Ctlgrs276174918
Max Magnitude6
rs276174918, also known as 9480del4insTT, c.9252_9255delAACAinsTT and p.Lys3084_Thr3085AsnTrpfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs276174918(TT;TT)
Alt rs276174918(TT;TT)
Reference rs276174918(AACA;AACA)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome
Reversed 0
HGVS NC_000013.10:g.32954278_32954281delAACAinsTT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000077036.3, RCV000190458.1,