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rs879255282

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;CCCT) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs879255282(CCCT;CCCT)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position43076579
GeneBRCA1
is asnp
is mentioned by
dbSNPrs879255282
dbSNP (classic)rs879255282
ClinGenrs879255282
ebirs879255282
HLIrs879255282
Exacrs879255282
Gnomadrs879255282
Varsomers879255282
LitVarrs879255282
Maprs879255282
PheGenIrs879255282
Biobankrs879255282
1000 genomesrs879255282
hgdprs879255282
ensemblrs879255282
geneviewrs879255282
scholarrs879255282
googlers879255282
pharmgkbrs879255282
gwascentralrs879255282
openSNPrs879255282
23andMers879255282
SNPshotrs879255282
SNPdbers879255282
MSV3drs879255282
GWAS Ctlgrs879255282
Max Magnitude6

aka c.4389_4392dupCCCT (p.Ile1465Profs)

23andMe name: i702455

ClinVar
Risk rs879255282(CCCT;CCCT)
Alt rs879255282(CCCT;CCCT)
Reference Rs879255282(-;-)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41228597_41228600dupAGGG
CLNSRC
CLNACC RCV000239092.1,