NM_201253.2(CRB1):c.99G>T (p.Arg33Ser)

Variation ID: Help
100609
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_201253.2(CRB1):c.99G>T (p.Arg33Ser)

Allele ID:
106486
Variant type:
single nucleotide variant
Cytogenetic location:
1q31.3
Genomic location:
  • Chr1: 197328450 (on Assembly GRCh38)
  • Chr1: 197297580 (on Assembly GRCh37)
Protein change:
R33S
HGVS:
  • NG_008483.2:g.131989G>T
  • NM_001257965.1:c.-109G>T
  • NM_201253.2:c.99G>T
  • NP_957705.1:p.Arg33Ser
  • NC_000001.11:g.197328450G>T (GRCh38)
  • NR_047563.1:n.308G>T
  • NC_000001.10:g.197297580G>T (GRCh37)
Links:
dbSNP: 59691602
NCBI 1000 Genomes Browser:
rs59691602
Molecular consequence:
  • NM_001257965.1:c.-109G>T: 5 prime UTR variant SO:0001623
  • NM_201253.2:c.99G>T: missense variant SO:0001583
  • NR_047563.1:n.308G>T: non-coding transcript variant SO:0001619
Allele frequency:
  • GO-ESP 0.00661 (T)
  • GMAF 0.00600 (T)
  • ExAC 0.00174 (T)

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
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
clinical testing
  • Retinitis Pigmentosa, Recessive[MedGen]
germline
    Illumina Clinical Services Laboratory,IlluminaSCV000352775.2
    Likely benign
    (Jun 14, 2016)
    criteria provided, single submitter
    clinical testinggermline
      Illumina Clinical Services Laboratory,IlluminaSCV000352776.2
      Likely benign
      (Jun 14, 2016)
      criteria provided, single submitter
      clinical testinggermline
        Illumina Clinical Services Laboratory,IlluminaSCV000352777.2
        not providedno assertion providedliterature onlynot provided
          NEI DNA Diagnostic Laboratory,National Institutes of HealthSCV000119258.1
          SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
          Total for all submittersnot providednot providedgermline, not providednot providednot provided
          Illumina Clinical Services Laboratory,Illuminanot providednot providedgermlinenot providednot providednot providednot provided
          NEI DNA Diagnostic Laboratory,National Institutes of Healthnot providednot providednot providednot providednot providednot providednot provided
          SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

          Last Updated: Sep 26, 2017