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NM_000274.3(OAT):c.550G>A (p.Ala184Thr)

Variation ID: Help
167
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Jun 1, 1992
Number of submission(s):
1
Condition(s):
Ornithine aminotransferase deficiency[MedGen - OMIM - Human Phenotype Ontology]
See supporting ClinVar records

Allele(s) Help

NM_000274.3(OAT):c.550G>A (p.Ala184Thr)

Allele ID:
15206
Variant type:
single nucleotide variant
Cytogenetic location:
10q26.1
Genomic location:
  • Chr10: 124405534 (on Assembly GRCh38)
  • Chr10: 126094103 (on Assembly GRCh37)
Protein change:
R184T, A184T, A46T
HGVS:
  • NG_008861.1:g.18417G>A
  • NM_000274.3:c.550G>A
  • NM_001171814.1:c.136G>A
  • NM_001322974.1:c.-51G>A
  • NP_000265.1:p.Ala184Thr
  • NP_001165285.1:p.Ala46Thr
  • NC_000010.11:g.124405534C>T (GRCh38)
  • LRG_685t1:c.550G>A
  • NC_000010.10:g.126094103C>T (GRCh37)
  • LRG_685p1:p.Ala184Thr
  • LRG_685:g.18417G>A
Links:
NCBI 1000 Genomes Browser:
rs121965050
Molecular consequence:
  • NM_000274.3:c.550G>A: missense variant SO:0001583
  • NM_001322974.1:c.-51G>A: 5 prime UTR variant SO:0001623

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
Pathogenic
(Jun 1, 1992)
no assertion criteria providedliterature onlygermlineOMIMSCV000020333.2
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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