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rs273898673

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs273898673(-;-)
Make rs273898673(A;A)
ReferenceGRCh38 38.1/142
Chromosome17
Position43106464
GeneBRCA1
is asnp
is mentioned by
dbSNPrs273898673
ebirs273898673
HLIrs273898673
Exacrs273898673
Varsomers273898673
Maprs273898673
PheGenIrs273898673
hapmaprs273898673
1000 genomesrs273898673
hgdprs273898673
ensemblrs273898673
gopubmedrs273898673
geneviewrs273898673
scholarrs273898673
googlers273898673
pharmgkbrs273898673
gwascentralrs273898673
openSNPrs273898673
23andMers273898673
23andMe allrs273898673
SNP Nexus

SNPshotrs273898673
SNPdbers273898673
MSV3drs273898673
GWAS Ctlgrs273898673
Max Magnitude6
rs273898673, also known as 322insA, c.203_204insA and p.Ile68?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs273898673(A;A)
Alt rs273898673(A;A)
Reference rs273898673(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41258481dupT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000112003.1,