Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NTRK1, 1-BP INS, 1926T

Help
Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Jun 19, 2000
Accession:
VCV000012309.4
Variation ID:
12309
Description:
insertion
Help

NTRK1, 1-BP INS, 1926T

Allele ID
27348
Variant type
Insertion
Variant length
-
Cytogenetic location
1q21-q22
Genomic location
-
HGVS
-
Protein change
-
Other names
1-BP INS, 1926T
Canonical SPDI
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 191315.0010
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Jun 19, 2000 RCV000013102.27
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jun 19, 2000)
no assertion criteria provided
Method: literature only
INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS
Allele origin: germline
OMIM
Accession: SCV000033349.4
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

Functional evidence

Help
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

Help
Title Author Journal Year Link
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

Record last updated Apr 17, 2020