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rs276174867

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AA;CAC) 6 BRCA2 variant considered pathogenic for breast cancer
(CAC;CAC) 0 common in clinvar


Make rs276174867(AA;AA)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340575
GeneBRCA2
is asnp
is mentioned by
dbSNPrs276174867
ebirs276174867
HLIrs276174867
Exacrs276174867
Varsomers276174867
Maprs276174867
PheGenIrs276174867
hapmaprs276174867
1000 genomesrs276174867
hgdprs276174867
ensemblrs276174867
gopubmedrs276174867
geneviewrs276174867
scholarrs276174867
googlers276174867
pharmgkbrs276174867
gwascentralrs276174867
openSNPrs276174867
23andMers276174867
23andMe allrs276174867
SNP Nexus

SNPshotrs276174867
SNPdbers276174867
MSV3drs276174867
GWAS Ctlgrs276174867
Max Magnitude6
rs276174867, also known as 6448delCACinsAA, c.6220_6222delCACinsAA and p.His2074Lysfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs276174867(AA;AA)
Alt rs276174867(AA;AA)
Reference Rs276174867(CAC;CAC)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32914712_32914714delCACinsAA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044875.2, RCV000113551.2,