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NM_000283.3(PDE6B):c.1669C>T (p.His557Tyr)

Variation ID: Help
13106
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Jun 1, 1993
Number of submission(s):
2
Condition(s):
See supporting ClinVar records

Allele(s) Help

NM_000283.3(PDE6B):c.1669C>T (p.His557Tyr)

Allele ID:
28145
Variant type:
single nucleotide variant
Cytogenetic location:
4p16
Genomic location:
  • Chr4: 662188 (on Assembly GRCh38)
  • Chr4: 655977 (on Assembly GRCh37)
Protein change:
H557Y
HGVS:
  • NG_009839.1:g.41615C>T
  • NM_000283.3:c.1669C>T
  • NP_000274.2:p.His557Tyr
  • NC_000004.12:g.662188C>T (GRCh38)
  • NC_000004.11:g.655977C>T (GRCh37)
  • P35913:p.His557Tyr
Links:
NCBI 1000 Genomes Browser:
rs121918581
Molecular consequence:
NM_000283.3:c.1669C>T: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
ExAC 0.00010 (T)

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
(Jun 1, 1993)
no assertion criteria providedliterature onlygermlineOMIMSCV000034232.2
Pathogenicno assertion criteria providedliterature onlynot provided
    Department of Ophthalmology and Visual Sciences Kyoto UniversitySCV000172518.1
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Total for all submittersnot providednot providedgermline, not providednot providednot provided
    Department of Ophthalmology and Visual Sciences Kyoto Universitynot providednot providednot providednot providednot providednot providedConverted during submission to…Full description
    OMIMnot providednot providedgermlinenot providednot providednot provided
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: Oct 24, 2018