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NM_198241.2(EIF4G1):c.1505C>T (p.Ala502Val)

Variation ID: Help
30073
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
risk factor
Last evaluated:
Jan 1, 2015
Number of submission(s):
1
Condition(s):
Parkinson disease 18[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_198241.2(EIF4G1):c.1505C>T (p.Ala502Val)

Allele ID:
39028
Variant type:
single nucleotide variant
Cytogenetic location:
3q27
Genomic location:
  • Chr3: 184322089 (on Assembly GRCh38)
  • Chr3: 184039877 (on Assembly GRCh37)
Protein change:
A502V
HGVS:
  • NG_016850.1:g.12522C>T
  • NM_198241.2:c.1505C>T
  • NP_937884.1:p.Ala502Val
  • NC_000003.12:g.184322089C>T (GRCh38)
  • NC_000003.11:g.184039877C>T (GRCh37)
  • Q04637:p.Ala502Val
Links:
NCBI 1000 Genomes Browser:
rs111290936
Molecular consequence:
NM_198241.2:c.1505C>T: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • Exome Aggregation Consortium (ExAC) 0.00007
  • NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00015
  • The Genome Aggregation Database (gnomAD) 0.00013
  • The Genome Aggregation Database (gnomAD), exomes 0.00006
  • Trans-Omics for Precision Medicine (TOPMed) 0.00005

1 Affected gene

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

Browser views

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
risk factor
(Jan 1, 2015)
no assertion criteria providedliterature onlygermlineOMIMSCV000044267.2
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Mar 31, 2019

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