NM_000298.5(PKLR):c.1436G>A (p.Arg479His)

Variation ID: Help
1510
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Feb 1, 2009
Number of submission(s):
1
Condition(s):
Pyruvate kinase deficiency of red cells[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_000298.5(PKLR):c.1436G>A (p.Arg479His)

Allele ID:
16549
Variant type:
single nucleotide variant
Cytogenetic location:
1q22
Genomic location:
  • Chr1: 155293177 (on Assembly GRCh38)
  • Chr1: 155262968 (on Assembly GRCh37)
Protein change:
R479H, R448H
HGVS:
  • NG_011677.1:g.13258G>A
  • NM_000298.5:c.1436G>A
  • NM_181871.3:c.1343G>A
  • NP_000289.1:p.Arg479His
  • NP_870986.1:p.Arg448His
  • NC_000001.11:g.155293177C>T (GRCh38)
  • NC_000001.10:g.155262968C>T (GRCh37)
  • P30613:p.Arg479His
Links:
NCBI 1000 Genomes Browser:
rs118204085
Molecular consequence:
NM_000298.5:c.1436G>A: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • GO-ESP 0.00008 (T)
  • ExAC 0.00003 (T)

Variant frequency in dbGaP Help

NM_000298.5(PKLR):c.1436G>A (p.Arg479His)

GRCh37 Chr1:155262968
Called variantsPotential variants
Sample count1 of 29527 of 40882

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.

Browser views

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(Feb 1, 2009)
no assertion criteria providedliterature only
  • Pyruvate kinase deficiency of red cells[MedGen | OMIM]
germlineOMIMSCV000021730.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: May 5, 2017