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NM_001169109.1(SCO2):c.107G>A (p.Trp36Ter)

Variation ID: Help
5685
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Nov 1, 2008
Number of submission(s):
1
Condition(s):
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency[MedGen - Orphanet - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_001169109.1(SCO2):c.107G>A (p.Trp36Ter)

Allele ID:
20724
Variant type:
single nucleotide variant
Cytogenetic location:
22q13.3
Genomic location:
  • Chr22: 50524305 (on Assembly GRCh38)
  • Chr22: 50962734 (on Assembly GRCh37)
Protein change:
W36*
HGVS:
  • NG_016235.1:g.7135G>A
  • NM_001169109.1:c.107G>A
  • NP_001162580.1:p.Trp36Ter
  • NC_000022.11:g.50524305C>T (GRCh38)
  • NC_000022.10:g.50962734C>T (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs121908508
Molecular consequence:
NM_001169109.1:c.107G>A: nonsense [Sequence Ontology SO:0001587]

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
(Nov 1, 2008)
no assertion criteria providedliterature only
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency[MedGen | Orphanet | OMIM]
germlineOMIMSCV000026221.2
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Apr 26, 2019

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