NM_001012331.1(NTRK1):c.[25C>T;1792C>T;1820G>T] AND Hereditary insensitivity to pain with anhidrosis

Clinical significance:Pathogenic (Last evaluated: Feb 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:
RCV000030667.26

Alleles description [Variation Report for NM_001012331.1(NTRK1):c.[25C>T;1792C>T;1820G>T]]

NM_001007792.1(NTRK1):c.123-3395C>T

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.123-3395C>T
HGVS:
  • NC_000001.11:g.156860959C>T
  • NG_007493.1:g.50210C>T
  • NM_001007792.1:c.123-3395C>T
  • NM_001012331.1:c.25C>T
  • NM_002529.3:c.25C>T
  • NP_001012331.1:p.Gln9Ter
  • NP_002520.2:p.Gln9Ter
  • LRG_261t1:c.123-3395C>T
  • LRG_261t2:c.25C>T
  • LRG_261t3:c.25C>T
  • LRG_261:g.50210C>T
  • LRG_261p2:p.Gln9Ter
  • LRG_261p3:p.Gln9Ter
  • NC_000001.10:g.156830751C>T
Protein change:
Q9*; GLN9TER
Links:
OMIM: 191315.0005; dbSNP: rs80356673
NCBI 1000 Genomes Browser:
rs80356673
Molecular consequence:
  • NM_001007792.1:c.123-3395C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001012331.1:c.25C>T - nonsense - [Sequence Ontology: SO:0001587]

NM_001007792.1(NTRK1):c.1730G>T (p.Gly577Val)

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.1730G>T (p.Gly577Val)
Other names:
p.G607V:GGT>GTT
HGVS:
  • NC_000001.11:g.156879154G>T
  • NG_007493.1:g.68405G>T
  • NM_001007792.1:c.1730G>T
  • NM_001012331.1:c.1820G>T
  • NM_002529.3:c.1838G>T
  • NP_001007793.1:p.Gly577Val
  • NP_001012331.1:p.Gly607Val
  • NP_002520.2:p.Gly613Val
  • LRG_261t1:c.1730G>T
  • LRG_261t2:c.1820G>T
  • LRG_261t3:c.1838G>T
  • LRG_261:g.68405G>T
  • LRG_261p1:p.Gly577Val
  • LRG_261p2:p.Gly607Val
  • LRG_261p3:p.Gly613Val
  • NC_000001.10:g.156848946G>T
Protein change:
G577V; GLY607VAL
Links:
OMIM: 191315.0005; OMIM: 191315.0009; dbSNP: rs6339
NCBI 1000 Genomes Browser:
rs6339
Molecular consequence:
  • NM_001007792.1:c.1730G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001012331.1:c.1820G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002529.3:c.1838G>T - missense variant - [Sequence Ontology: SO:0001583]

NM_001007792.1(NTRK1):c.1702C>T (p.His568Tyr)

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.1702C>T (p.His568Tyr)
HGVS:
  • NC_000001.11:g.156879126C>T
  • NG_007493.1:g.68377C>T
  • NM_001007792.1:c.1702C>T
  • NM_001012331.1:c.1792C>T
  • NM_002529.3:c.1810C>T
  • NP_001007793.1:p.His568Tyr
  • NP_001012331.1:p.His598Tyr
  • NP_002520.2:p.His604Tyr
  • LRG_261t1:c.1702C>T
  • LRG_261t2:c.1792C>T
  • LRG_261t3:c.1810C>T
  • LRG_261:g.68377C>T
  • LRG_261p1:p.His568Tyr
  • LRG_261p2:p.His598Tyr
  • LRG_261p3:p.His604Tyr
  • NC_000001.10:g.156848918C>T
  • P04629:p.His604Tyr
Protein change:
H568Y; HIS598TYR
Links:
UniProtKB: P04629#VAR_009628; OMIM: 191315.0005; OMIM: 191315.0008; dbSNP: rs6336
NCBI 1000 Genomes Browser:
rs6336
Molecular consequence:
  • NM_001007792.1:c.1702C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001012331.1:c.1792C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002529.3:c.1810C>T - 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
SCV000033344OMIMno assertion criteria providedPathogenic
(Feb 1, 2001)
germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor.

Mardy S, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.

Am J Hum Genet. 1999 Jun;64(6):1570-9.

PubMed [citation]
PMID:
10330344
PMCID:
PMC1377900

Details of each submission

From OMIM, SCV000033344.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In an Italian patient with congenital insensitivity to pain with anhidrosis (CIPA; 256800), Mardy et al. (1999) found homozygosity for a triple mutation in exons 1 and 15 in the NTRK1 gene, leading to 1 nonsense mutation (gln9 to ter; Q9X) and 2 missense mutations (his598 to tyr and gly607 to val). Mardy et al. (1999) suggested that the Q9X mutation was the most likely cause of CIPA in this family. The missense mutations were later determined to have no effect on autophosphorylation of NTRK1 (Mardy et al., 2001), and are thus likely to be polymorphisms in this population.

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

Last Updated: Oct 2, 2021

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