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NM_001904.3(CTNNB1):c.100G>A (p.Gly34Arg)

Variation ID: Help
376232
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_001904.3(CTNNB1):c.100G>A (p.Gly34Arg)

Allele ID:
363111
Variant type:
single nucleotide variant
Cytogenetic location:
3p22.1
Genomic location:
  • Chr3: 41224612 (on Assembly GRCh38)
  • Chr3: 41266103 (on Assembly GRCh37)
Protein change:
G34R
HGVS:
  • NG_013302.2:g.30162G>A
  • NM_001904.3:c.100G>A
  • NP_001895.1:p.Gly34Arg
  • NC_000003.12:g.41224612G>A (GRCh38)
  • NC_000003.11:g.41266103G>A (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs121913399
Molecular consequence:
NM_001904.3:c.100G>A: missense variant [Sequence Ontology SO:0001583]

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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Assertion and evidence details

Somatic

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Likely pathogenic
(Jul 14, 2015)
no assertion criteria providedliterature onlysomaticDatabase of Curated Mutations (DoCM)
Study description
SCV000505400.1
Likely pathogenic
(Jul 14, 2015)
no assertion criteria providedliterature onlysomaticDatabase of Curated Mutations (DoCM)
Study description
SCV000505401.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Database of Curated Mutations (DoCM)not providednot providedsomaticnot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Mar 31, 2019

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