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NM_005276.3(GPD1):c.686G>C (p.Arg229Pro)

Variation ID: Help
157542
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Oct 1, 2014
Number of submission(s):
1
Condition(s):
Hypertriglyceridemia, transient infantile[MedGen - Orphanet - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_005276.3(GPD1):c.686G>C (p.Arg229Pro)

Allele ID:
167405
Variant type:
single nucleotide variant
Cytogenetic location:
12q13.12
Genomic location:
  • Chr12: 50107640 (on Assembly GRCh38)
  • Chr12: 50501423 (on Assembly GRCh37)
Protein change:
R229Q, R229P
HGVS:
  • NG_032168.1:g.8822G>C
  • NM_005276.3:c.686G>C
  • NP_005267.2:p.Arg229Pro
  • NC_000012.12:g.50107640G>C (GRCh38)
  • NC_000012.11:g.50501423G>C (GRCh37)
  • P21695:p.Arg229Pro
Links:
NCBI 1000 Genomes Browser:
rs199673455
Molecular consequence:
NM_005276.3:c.686G>C: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • 1000 Genomes Project 0.00020 (A)
  • The Genome Aggregation Database (gnomAD), exomes 0.00001

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
(Oct 1, 2014)
no assertion criteria providedliterature onlygermlineOMIMSCV000191889.2
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Mar 31, 2019

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