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NM_001195226.1(PRODH):c.1417C>T (p.Leu473=)

Variation ID: Help
127267
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_001195226.1(PRODH):c.1417C>T (p.Leu473=)

Allele ID:
132724
Variant type:
single nucleotide variant
Cytogenetic location:
22q11.21
Genomic location:
  • Chr22: 18913237 (on Assembly GRCh38)
  • Chr22: 18900750 (on Assembly GRCh37)
HGVS:
  • NG_008226.2:g.28317C>T
  • NM_001195226.1:c.1417C>T
  • NM_016335.4:c.1741C>T
  • NP_001182155.1:p.Leu473=
  • NP_057419.4:p.Leu581=
  • NC_000022.11:g.18913237G>A (GRCh38)
  • NC_000022.10:g.18900750G>A (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs372055
Molecular consequence:
NM_016335.4:c.1741C>T: synonymous variant [Sequence Ontology SO:0001819]
Allele frequency:
  • 1000 Genomes Project 0.23662 (G)
  • 1000 Genomes Project 0.76338
  • Exome Aggregation Consortium (ExAC) 0.78900
  • NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.75880
  • The Genome Aggregation Database (gnomAD) 0.75244
  • The Genome Aggregation Database (gnomAD), exomes 0.78378

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Uncertain significanceno assertion criteria providedliterature onlyinherited
    Genomic Research Center,Shahid Beheshti University of Medical SciencesSCV000148972.1
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Genomic Research Center,Shahid Beheshti University of Medical Sciencesnot providednot providedinheritednot providednot providednot providedConverted during submission to…Full description
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: Mar 31, 2019

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