NM_174894.2(TRAPPC5):c.548G>C (p.Arg183Pro)

NM_174894.2(TRAPPC5):c.548G>C (p.Arg183Pro)

Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
  • Chr19:7682801 (on Assembly GRCh38)
  • Chr19:7747687 (on Assembly GRCh37)
Protein change:
  • NM_174894.2:c.548G>C
  • NC_000019.10:g.7682801G>C (GRCh38)
  • NP_777554.1:p.Arg183Pro
  • NC_000019.9:g.7747687G>C (GRCh37)
dbSNP: 398122420
NCBI 1000 Genomes Browser:
Molecular consequence:
NM_174894.2:c.548G>C: missense variant [Sequence Ontology SO:0001583]

Clinical significance

NM_174894.2(TRAPPC5):c.548G>C (p.Arg183Pro)

Clinical significance:
Uncertain significance
Review status:
(0/4)0 stars out of maximum of 4 stars
no assertion criteria provided
Number of submission(s):
See supporting ClinVar records

Variant frequency in dbGaP (Help)

NM_174894.2(TRAPPC5):c.548G>C (p.Arg183Pro)

GRCh37 Chr19:7747687
Called variants
Submitted with study
Potential variants
Observed in aligned sequence data (dbGaP)
Sample countno data available0 of 27400
Frequencyno data available0

1 Affected gene

Browser views

Assertion and evidence details


Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study name
(Last submitted)
Submission accession
Uncertain significanceno assertion criteria providedliterature onlynot providedMitochondrial Research; Murdoch Childrens Research Institute
Study description

(Dec 9, 2013)

SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Mitochondrial Research; Murdoch Childrens Research Institutenot providednot providednot providednot providednot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription
Mitochondrial Research; Murdoch Childrens Research Institutenot providednot providednot provided (not provided)not providednot providednot providedConverted during submission to Uncertain significance.

Last Updated: Sep 29, 2015