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NM_001012331.1(NTRK1):c.[25C>T;1792C>T;1820G>T]

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Feb 1, 2001
Accession:
VCV000012304.4
Variation ID:
12304
Description:
Haplotype
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NM_001012331.1(NTRK1):c.[25C>T;1792C>T;1820G>T]

Other names
NTRK1, GLN9TER, HIS598TYR, AND GLY607VAL
Functional consequence
-
Links
ClinGen: CA045135
OMIM: 191315.0005
This haplotype includes the following variants
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Feb 1, 2001 RCV000030667.26
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
NTRK1 - - GRCh38
GRCh37
677 723

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Feb 01, 2001)
no assertion criteria provided
Method: literature only
INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS
Allele origin: germline
OMIM
Accession: SCV000033344.4
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (2)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
<i>NTRK1</i> Congenital Insensitivity to Pain with Anhidrosis Indo Y - 2020 PMID: 20301726
Novel pathogenic mechanisms of congenital insensitivity to pain with anhidrosis genetic disorder unveiled by functional analysis of neurotrophic tyrosine receptor kinase type 1/nerve growth factor receptor mutations. Miranda C The Journal of biological chemistry 2002 PMID: 11719521
Congenital insensitivity to pain with anhidrosis (CIPA): effect of TRKA (NTRK1) missense mutations on autophosphorylation of the receptor tyrosine kinase for nerve growth factor. Mardy S Human molecular genetics 2001 PMID: 11159935
Two novel mutant alleles of the gene encoding neurotrophic tyrosine kinase receptor type 1 (NTRK1) in a patient with congenital insensitivity to pain with anhidrosis: a splice junction mutation in intron 5 and cluster of four mutations in exon 15. Bodzioch M Human mutation 2001 PMID: 11139246
Congenital insensitivity to pain with anhidrosis (CIPA) in Israeli-Bedouins: genetic heterogeneity, novel mutations in the TRKA/NGF receptor gene, clinical findings, and results of nerve conduction studies. Shatzky S American journal of medical genetics 2000 PMID: 10861667
Mutation analysis reveals novel sequence variants in NTRK1 in sporadic human medullary thyroid carcinoma. Gimm O The Journal of clinical endocrinology and metabolism 1999 PMID: 10443680
Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor. Mardy S American journal of human genetics 1999 PMID: 10330344
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=NTRK1 - - - -

Record last updated Oct 02, 2021