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rs730881608

From SNPedia

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


Make rs730881608(-;-)
ReferenceGRCh38.p2 38.2/144
Chromosome13
Position32338632
GeneBRCA2
is asnp
is mentioned by
dbSNPrs730881608
ebirs730881608
HLIrs730881608
Exacrs730881608
Varsomers730881608
Maprs730881608
PheGenIrs730881608
hapmaprs730881608
1000 genomesrs730881608
hgdprs730881608
ensemblrs730881608
gopubmedrs730881608
geneviewrs730881608
scholarrs730881608
googlers730881608
pharmgkbrs730881608
gwascentralrs730881608
openSNPrs730881608
23andMers730881608
23andMe allrs730881608
SNP Nexus

SNPshotrs730881608
SNPdbers730881608
MSV3drs730881608
GWAS Ctlgrs730881608
Max Magnitude6

rs730881608, also known as c.4277delC or p.Thr1426Asnfs, is a rare mutation in the BRCA2 gene on chromosome 13.

The minor/rare allele of this SNP is tagged as pathogenic for breast cancer in ClinVar.


ClinVar
Risk rs730881608(;)
Alt rs730881608(;)
Reference rs730881608(C;C)
Significance Pathogenic
Disease Familial cancer of breast
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast
Reversed 0
HGVS NC_000013.10:g.32912769delC
CLNSRC
CLNACC RCV000160286.1,