NM_000784.4(CYP27A1):c.1342C>T (p.Arg448Cys) AND Regression of motor development with severe dystonia and corresponding basal ganglia lesions

Clinical significance:Likely pathogenic (Last evaluated: Dec 1, 2014)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000162100.1

Allele description [Variation Report for NM_000784.4(CYP27A1):c.1342C>T (p.Arg448Cys)]

NM_000784.4(CYP27A1):c.1342C>T (p.Arg448Cys)

Gene:
CYP27A1:cytochrome P450 family 27 subfamily A member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q35
Genomic location:
Preferred name:
NM_000784.4(CYP27A1):c.1342C>T (p.Arg448Cys)
HGVS:
  • NC_000002.12:g.218814623C>T
  • NG_007959.1:g.37875C>T
  • NM_000784.4:c.1342C>TMANE SELECT
  • NP_000775.1:p.Arg448Cys
  • NC_000002.11:g.219679346C>T
  • NM_000784.3:c.1342C>T
Protein change:
R448C
Links:
dbSNP: rs730882199
NCBI 1000 Genomes Browser:
rs730882199
Molecular consequence:
  • NM_000784.4:c.1342C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Regression of motor development with severe dystonia and corresponding basal ganglia lesions
Identifiers:
MedGen: CN228275

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000196385Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centreno assertion criteria provided
    Likely pathogenic
    (Dec 1, 2014)
    germlineresearch

    PubMed (1)
    [See all records that cite this PMID]

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedgermlineyesnot providednot providednot providednot providednot providedresearch

    Citations

    PubMed

    Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

    Alazami AM, Patel N, Shamseldin HE, Anazi S, Al-Dosari MS, Alzahrani F, Hijazi H, Alshammari M, Aldahmesh MA, Salih MA, Faqeih E, Alhashem A, Bashiri FA, Al-Owain M, Kentab AY, Sogaty S, Al Tala S, Temsah MH, Tulbah M, Aljelaify RF, Alshahwan SA, Seidahmed MZ, et al.

    Cell Rep. 2015 Jan 13;10(2):148-61. doi: 10.1016/j.celrep.2014.12.015. Epub 2014 Dec 31.

    PubMed [citation]
    PMID:
    25558065

    Details of each submission

    From Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre, SCV000196385.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedresearch PubMed (1)
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1germlineyesnot providednot providednot providednot providednot providednot providednot provided

    Last Updated: Nov 2, 2019

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