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NM_000531.5(OTC):c.332T>C (p.Leu111Pro)

Variation ID: Help
10989
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Jan 26, 2017
Number of submission(s):
1
Condition(s):
Ornithine carbamoyltransferase deficiency[MedGen - Orphanet - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_000531.5(OTC):c.332T>C (p.Leu111Pro)

Allele ID:
26028
Variant type:
single nucleotide variant
Cytogenetic location:
Xp11.4
Genomic location:
  • ChrX: 38381375 (on Assembly GRCh38)
  • ChrX: 38240628 (on Assembly GRCh37)
Protein change:
L111P
HGVS:
  • NG_008471.1:g.33893T>C
  • NM_000531.5:c.332T>C
  • NP_000522.3:p.Leu111Pro
  • NC_000023.11:g.38381375T>C (GRCh38)
  • NC_000023.10:g.38240628T>C (GRCh37)
  • P00480:p.Leu111Pro
Links:
NCBI 1000 Genomes Browser:
rs1800324
Molecular consequence:
NM_000531.5:c.332T>C: 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
Pathogenic
(Jan 26, 2017)
no assertion criteria providedliterature onlygermline
    OMIMSCV000031968.2
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    OMIMnot providednot providedgermlinenot providednot provided
      not provided
      SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

      Last Updated: Mar 31, 2019

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