NM_001007792.1(NTRK1):c.1621G>C (p.Gly541Arg) AND Hereditary insensitivity to pain with anhidrosis

Clinical significance:Pathogenic (Last evaluated: Dec 1, 2001)

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:
RCV000013096.19

Allele description [Variation Report for NM_001007792.1(NTRK1):c.1621G>C (p.Gly541Arg)]

NM_001007792.1(NTRK1):c.1621G>C (p.Gly541Arg)

Gene:
NTRK1:neurotrophic receptor tyrosine kinase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q23.1
Genomic location:
Preferred name:
NM_001007792.1(NTRK1):c.1621G>C (p.Gly541Arg)
HGVS:
  • NC_000001.11:g.156876496G>C
  • NG_007493.1:g.65747G>C
  • NM_001007792.1:c.1621G>C
  • NM_001012331.1:c.1711G>C
  • NM_002529.3:c.1729G>C
  • NP_001007793.1:p.Gly541Arg
  • NP_001012331.1:p.Gly571Arg
  • NP_002520.2:p.Gly577Arg
  • LRG_261t1:c.1621G>C
  • LRG_261t2:c.1711G>C
  • LRG_261t3:c.1729G>C
  • LRG_261:g.65747G>C
  • LRG_261p1:p.Gly541Arg
  • LRG_261p2:p.Gly571Arg
  • LRG_261p3:p.Gly577Arg
  • NC_000001.10:g.156846288G>C
Protein change:
G541R; GLY571ARG
Links:
OMIM: 191315.0003; dbSNP: rs121964866
NCBI 1000 Genomes Browser:
rs121964866
Molecular consequence:
  • NM_001007792.1:c.1621G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001012331.1:c.1711G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002529.3:c.1729G>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000033342OMIMno assertion criteria providedPathogenic
(Dec 1, 2001)
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

Details of each submission

From OMIM, SCV000033342.3

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

Description

In a patient with congenital insensitivity to pain and anhidrosis (CIPA; 256800), Indo et al. (1996) found a G-to-C transversion at nucleotide 1795 in exon C that caused a gly571-to-arg (G571R) substitution. The patient and parents were homozygous and heterozygous for this mutation, respectively. The authors noted that G571 is located in the tyrosine kinase domain and is conserved among 14 receptor tyrosine kinases, including human TRKB (600456) and TRKC (191316), suggesting that it is important for enzyme activity.

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

Last Updated: Oct 23, 2020

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