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NM_014249.3(NR2E3):c.264G>T (p.Gly88=)

Variation ID: Help
317007
Review status: Help
criteria provided, multiple submitters, no conflicts2 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_014249.3(NR2E3):c.264G>T (p.Gly88=)

Allele ID:
323250
Variant type:
single nucleotide variant
Cytogenetic location:
15q23
Genomic location:
  • Chr15: 71811784 (on Assembly GRCh38)
  • Chr15: 72104124 (on Assembly GRCh37)
HGVS:
  • NG_009113.2:g.6230G>T
  • NM_014249.3:c.264G>T
  • NM_016346.3:c.264G>T
  • NP_055064.1:p.Gly88=
  • NP_057430.1:p.Gly88=
  • NC_000015.10:g.71811784G>T (GRCh38)
  • NC_000015.9:g.72104124G>T (GRCh37)
  • NM_014249.2:c.264G>T
Links:
NCBI 1000 Genomes Browser:
rs558123422
Molecular consequence:
NM_014249.3:c.264G>T: synonymous variant [Sequence Ontology SO:0001819]
Allele frequency:
  • 1000 Genomes Project 0.00120 (T)
  • 1000 Genomes Project 0.00120
  • Exome Aggregation Consortium (ExAC) 0.00056
  • The Genome Aggregation Database (gnomAD), exomes 0.00034
  • Trans-Omics for Precision Medicine (TOPMed) 0.00004

1 Affected gene

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,IlluminaSCV000393763.2
    Uncertain significance
    (Jun 14, 2016)
    criteria provided, single submitter
    clinical testing
    • Retinitis Pigmentosa, Recessive[MedGen]
    germline
      Illumina Clinical Services Laboratory,IlluminaSCV000393764.2
      Uncertain significance
      (Mar 1, 2018)
      criteria provided, single submitter
      clinical testingunknown
        CounsylSCV000798199.1
        SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
        Total for all submittersnot providednot providedgermline, unknownnot providednot provided
        Counsylnot providednot providedunknownnot providednot providednot providednot provided
        Illumina Clinical Services Laboratory,Illuminanot providednot providedgermlinenot providednot providednot providednot provided
        SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

        Last Updated: Mar 31, 2019

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