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NM_000436.3(OXCT1):c.848C>G (p.Ser283Ter)

Variation ID: Help
8163
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Sep 1, 1996
Number of submission(s):
1
Condition(s):
Succinyl-CoA acetoacetate transferase deficiency[MedGen - Orphanet - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_000436.3(OXCT1):c.848C>G (p.Ser283Ter)

Allele ID:
23202
Variant type:
single nucleotide variant
Cytogenetic location:
5p13.1
Genomic location:
  • Chr5: 41805674 (on Assembly GRCh38)
  • Chr5: 41805776 (on Assembly GRCh37)
Protein change:
S283*
HGVS:
  • NG_011823.1:g.70016C>G
  • NM_000436.3:c.848C>G
  • NP_000427.1:p.Ser283Ter
  • NC_000005.10:g.41805674G>C (GRCh38)
  • NC_000005.9:g.41805776G>C (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs121909299
Molecular consequence:
NM_000436.3:c.848C>G: nonsense [Sequence Ontology SO:0001587]
Allele frequency:
ExAC 0.00001 (C)

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
(Sep 1, 1996)
no assertion criteria providedliterature onlygermlineOMIMSCV000028850.2
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Sep 6, 2017