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NM_000284.3(PDHA1):c.406G>A (p.Ala136Thr)

Variation ID: Help
445760
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_000284.3(PDHA1):c.406G>A (p.Ala136Thr)

Allele ID:
439032
Variant type:
single nucleotide variant
Cytogenetic location:
Xp22.12
Genomic location:
  • ChrX: 19351395 (on Assembly GRCh38)
  • ChrX: 19369513 (on Assembly GRCh37)
Protein change:
A136T
HGVS:
  • NG_016781.1:g.12503G>A
  • NM_000284.3:c.406G>A
  • NP_000275.1:p.Ala136Thr
  • NC_000023.11:g.19351395G>A (GRCh38)
  • NC_000023.10:g.19369513G>A (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs138727886
Molecular consequence:
NM_000284.3:c.406G>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

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Uncertain significance
(Aug 1, 2017)
criteria provided, single submitter
clinical testinggermline
    Center for Pediatric Genomic Medicine,Children's Mercy Hospital and ClinicsSCV000610445.1
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinicsnot providednot providedgermlinenot providednot providednot providednot provided
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: Sep 8, 2018