NM_000286.2(PEX12):c.538C>T (p.Arg180Ter)

Variation ID: Help
7774
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Jun 8, 2004
Number of submission(s):
2
Condition(s):
  • Peroxisome biogenesis disorder 3A [MedGen - OMIM]
  • Peroxisomal biogenesis disorder 3b [MedGen]
See supporting ClinVar records

Allele(s) Help

NM_000286.2(PEX12):c.538C>T (p.Arg180Ter)

Allele ID:
22813
Variant type:
single nucleotide variant
Cytogenetic location:
17q12
Genomic location:
  • Chr17: 35577180 (on Assembly GRCh38)
  • Chr17: 33904199 (on Assembly GRCh37)
Protein change:
R180*
HGVS:
  • NG_008447.1:g.6458C>T
  • NM_000286.2:c.538C>T
  • NC_000017.11:g.35577180G>A (GRCh38)
  • NP_000277.1:p.Arg180Ter
  • NC_000017.10:g.33904199G>A (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs61752103
Molecular consequence:
NM_000286.2:c.538C>T: nonsense [Sequence Ontology SO:0001587]

Variant frequency in dbGaP Help

NM_000286.2(PEX12):c.538C>T (p.Arg180Ter)

GRCh37 Chr17:33904199
Called variantsPotential variants
Sample countno data1 of 41009

Called variants are samples submitted to dbGaP that have the variant allele. Potential variants are SRA runs that display the allele in at least 30% of the reads covering the position, and have 10 or more passing reads covering the position.

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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
(Jun 8, 2004)
no assertion criteria providedliterature onlygermlineOMIMSCV000028423.1
Pathogenic
(Jun 8, 2004)
no assertion criteria providedliterature only
  • Peroxisomal biogenesis disorder 3b[MedGen]
germlineOMIMSCV000056698.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: May 29, 2016