NM_002529.4(NTRK1):c.787G>A (p.Val263Met) AND Hereditary insensitivity to pain with anhidrosis

Clinical significance:Uncertain significance (Last evaluated: Apr 17, 2020)

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:
RCV001279998.1

Allele description [Variation Report for NM_002529.4(NTRK1):c.787G>A (p.Val263Met)]

NM_002529.4(NTRK1):c.787G>A (p.Val263Met)

Gene:
NTRK1:neurotrophic receptor tyrosine kinase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q23.1
Genomic location:
Preferred name:
NM_002529.4(NTRK1):c.787G>A (p.Val263Met)
HGVS:
  • NC_000001.11:g.156871692G>A
  • NG_007493.1:g.60943G>A
  • NM_001007792.1:c.697G>A
  • NM_001012331.2:c.787G>A
  • NM_002529.4:c.787G>AMANE SELECT
  • NP_001007793.1:p.Val233Met
  • NP_001012331.1:p.Val263Met
  • NP_002520.2:p.Val263Met
  • LRG_261t1:c.697G>A
  • LRG_261t2:c.787G>A
  • LRG_261:g.60943G>A
  • LRG_261p1:p.Val233Met
  • NC_000001.10:g.156841484G>A
  • NM_001012331.1:c.787G>A
Protein change:
V233M
Molecular consequence:
  • NM_001007792.1:c.697G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001012331.2:c.787G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002529.4:c.787G>A - 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
SCV001467141Natera, Inc.no assertion criteria providedUncertain significance
(Apr 17, 2020)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Natera, Inc., SCV001467141.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 2, 2021

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