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NM_000261.1(MYOC):c.224A>G (p.Gln75Arg)

Variation ID: Help
293722
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_000261.1(MYOC):c.224A>G (p.Gln75Arg)

Allele ID:
278495
Variant type:
single nucleotide variant
Cytogenetic location:
1q24.3
Genomic location:
  • Chr1: 171652388 (on Assembly GRCh38)
  • Chr1: 171621528 (on Assembly GRCh37)
Protein change:
Q75R
HGVS:
  • NG_008859.1:g.5246A>G
  • NM_000261.1:c.224A>G
  • NP_000252.1:p.Gln75Arg
  • NC_000001.11:g.171652388T>C (GRCh38)
  • NC_000001.10:g.171621528T>C (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs886045568
Molecular consequence:
NM_000261.1:c.224A>G: missense variant [Sequence Ontology SO:0001583]

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
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
clinical testinggermline
    Illumina Clinical Services Laboratory,IlluminaSCV000351309.2
    Uncertain significance
    (Jun 14, 2016)
    criteria provided, single submitter
    clinical testinggermline
      Illumina Clinical Services Laboratory,IlluminaSCV000351310.2
      SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
      Illumina Clinical Services Laboratory,Illuminanot providednot providedgermlinenot providednot providednot providednot provided
      SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

      Last Updated: Jun 17, 2019

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