NTRK1, IVS7AS, T-A, -33 AND Hereditary insensitivity to pain with anhidrosis

Clinical significance:Pathogenic (Last evaluated: Jan 1, 2000)

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:
RCV000013099.19

Allele description [Variation Report for NTRK1, IVS7AS, T-A, -33]

NTRK1, IVS7AS, T-A, -33

Gene:
NTRK1:neurotrophic receptor tyrosine kinase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q21-q22
Preferred name:
NTRK1, IVS7AS, T-A, -33
HGVS:
    Nucleotide change:
    IVS7AS, T-A, -33
    Links:
    OMIM: 191315.0007

    Condition(s)

    Name:
    Hereditary insensitivity to pain with anhidrosis (CIPA)
    Synonyms:
    FAMILIAL DYSAUTONOMIA, TYPE II; Insensitivity to pain, congenital, with anhidrosis; Neuropathy, congenital sensory, with anhidrosis; See all synonyms [MedGen]
    Identifiers:
    MONDO: MONDO:0009746; MedGen: C0020074; Orphanet: 642; OMIM: 256800

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    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV000033346OMIMno assertion criteria providedPathogenic
    (Jan 1, 2000)
    germlineliterature only

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

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

    Citations

    PubMed

    Mutation and polymorphism analysis of the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor in congenital insensitivity to pain with anhidrosis (CIPA) families.

    Miura Y, Mardy S, Awaya Y, Nihei K, Endo F, Matsuda I, Indo Y.

    Hum Genet. 2000 Jan;106(1):116-24. Erratum in: Hum Genet 2000 May;106(5):575.

    PubMed [citation]
    PMID:
    10982191

    Details of each submission

    From OMIM, SCV000033346.3

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedliterature only PubMed (1)

    Description

    In a Japanese patient with congenital insensitivity to pain with anhidrosis (CIPA; 256800), Miura et al. (2000) identified an intronic branch-site mutation, IVS7AS-33 T-A, causing aberrant splicing in vitro.

    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

    Last Updated: Apr 17, 2020

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