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rs273898676

From SNPedia

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


Make rs273898676(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093460
GeneBRCA1
is asnp
is mentioned by
dbSNPrs273898676
ebirs273898676
HLIrs273898676
Exacrs273898676
Varsomers273898676
Maprs273898676
PheGenIrs273898676
hapmaprs273898676
1000 genomesrs273898676
hgdprs273898676
ensemblrs273898676
gopubmedrs273898676
geneviewrs273898676
scholarrs273898676
googlers273898676
pharmgkbrs273898676
gwascentralrs273898676
openSNPrs273898676
23andMers273898676
23andMe allrs273898676
SNP Nexus

SNPshotrs273898676
SNPdbers273898676
MSV3drs273898676
GWAS Ctlgrs273898676
Max Magnitude6
rs273898676, also known as 2189delAA, c.2070_2071delAA and p.Lys690_Arg691LysThrfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs273898676(;)
Alt rs273898676(;)
Reference rs273898676(AA;AA)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41245477_41245478delTT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000077091.3, RCV000162849.1,