NTRK1 gene homepage

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
General information
Gene symbol NTRK1
Gene name neurotrophic tyrosine kinase, receptor, type 1
Chromosome 1
Chromosomal band q21-q22
Imprinted Unknown
Genomic reference NG_007493.1
Transcript reference NM_002529.3
Exon/intron information NM_002529.3 exon/intron table
Associated with diseases CIPA, MTC
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) LOVD-team, but with Curator vacancy and Johan den Dunnen
Total number of public variants reported 326
Unique public DNA variants reported 185
Individuals with public variants 521
Hidden variants 7
Download all this gene's data Download all data
Notes This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Variants involved in Inherited Peripheral Neuropathies are also collected by the IPNMDB.
Date created May 23, 2012
Date last updated January 19, 2019
Version NTRK1:190119

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_002529.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/NTRK1
External URL Orphanet
HGNC 8031
Entrez Gene 4914
PubMed articles NTRK1
OMIM - Gene 191315
OMIM - Diseases CIPA (pain insensitivity, hemorrhagic, with anhidrosis (CIPA))
MTC (carcinoma, thyroid, medullary, familial (MTC))
HGMD NTRK1
GeneCards NTRK1
GeneTests NTRK1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000106 1 neurotrophic tyrosine kinase, receptor, type 1, transcript variant 3 NM_002529.3 NP_001007793.1 326


Copyright & disclaimer
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We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.