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NM_014252.3(SLC25A15):c.535C>T (p.Arg179Ter)

Variation ID: Help
5994
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
May 31, 2012
Number of submission(s):
2
Condition(s):
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome[MedGen - Orphanet - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_014252.3(SLC25A15):c.535C>T (p.Arg179Ter)

Allele ID:
21033
Variant type:
single nucleotide variant
Cytogenetic location:
13q14.1
Genomic location:
  • Chr13: 40807376 (on Assembly GRCh38)
  • Chr13: 41381512 (on Assembly GRCh37)
Protein change:
R179*
HGVS:
  • NG_012248.1:g.22966C>T
  • NM_014252.3:c.535C>T
  • NP_055067.1:p.Arg179Ter
  • NC_000013.11:g.40807376C>T (GRCh38)
  • NC_000013.10:g.41381512C>T (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs104894429
Molecular consequence:
NM_014252.3:c.535C>T: nonsense [Sequence Ontology SO:0001587]
Allele frequency:
  • GMAF 0.00020 (T)
  • ExAC 0.00005 (T)

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
(May 1, 2009)
no assertion criteria providedliterature onlygermlineOMIMSCV000026542.1
Pathogenic
(May 31, 2012)
no assertion criteria providedliterature onlynot providedGeneReviewsSCV000054625.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Total for all submittersnot providednot providedgermline, not providednot providednot provided
GeneReviewsnot providednot providednot providednot providednot providedConverted during submission to…Full description
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: May 11, 2018