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NTRK1, IVS4, G-C, -1 AND ARG85SER

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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:
VCV000012305.4
Variation ID:
12305
Description:
single nucleotide variant
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NTRK1, IVS4, G-C, -1 AND ARG85SER

Allele ID
27344
Variant type
single nucleotide variant
Variant length
-
Cytogenetic location
1q21-q22
Genomic location
-
HGVS
-
Protein change
R85S
Other names
NTRK1, IVS4, G-C, -1 AND ARG85SER
Canonical SPDI
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 191315.0006
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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 RCV000013098.19
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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: SCV000033345.3
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
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
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

Record last updated Apr 17, 2020