NM_001007792.1(NTRK1):c.1646del (p.Leu549fs) AND Charcot-Marie-Tooth disease

Clinical significance:Uncertain significance

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:
RCV000789607.1

Allele description [Variation Report for NM_001007792.1(NTRK1):c.1646del (p.Leu549fs)]

NM_001007792.1(NTRK1):c.1646del (p.Leu549fs)

Gene:
NTRK1:neurotrophic receptor tyrosine kinase 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1q23.1
Genomic location:
Preferred name:
NM_001007792.1(NTRK1):c.1646del (p.Leu549fs)
HGVS:
  • NC_000001.11:g.156876521del
  • NG_007493.1:g.65772del
  • NM_001007792.1:c.1646del
  • NM_001012331.1:c.1736del
  • NM_002529.3:c.1754del
  • NP_001007793.1:p.Leu549fs
  • NP_001012331.1:p.Leu579fs
  • NP_002520.2:p.Leu585fs
  • LRG_261t1:c.1646del
  • LRG_261t2:c.1736del
  • LRG_261t3:c.1754del
  • LRG_261:g.65772del
  • LRG_261p1:p.Leu549fs
  • LRG_261p2:p.Leu579fs
  • LRG_261p3:p.Leu585fs
  • NC_000001.10:g.156846313del
  • NM_002529.3:c.1754delT
Protein change:
L549fs
Links:
dbSNP: rs1571699945
NCBI 1000 Genomes Browser:
rs1571699945
Molecular consequence:
  • NM_001007792.1:c.1646del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001012331.1:c.1736del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_002529.3:c.1754del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Charcot-Marie-Tooth disease
Synonyms:
Charcot-Marie-Tooth Neuropathy
Identifiers:
MONDO: MONDO:0015626; MedGen: C0007959; OMIM: PS118220

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000928970Inherited Neuropathy Consortiumno assertion criteria providedUncertain significancegermlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot 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 Inherited Neuropathy Consortium, SCV000928970.1

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

Last Updated: Sep 6, 2021

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