LOVD GDAP1 homepage

General information
Gene name ganglioside induced differentiation associated protein 1
Gene symbol GDAP1
Chromosome Location 8q13.3
Database location the Leiden Muscular Dystrophy pages
Curator Johan den Dunnen
Database reference for citations PMID54332
PubMed references View all (unique) PubMed references in the GDAP1 database
Date of creation April 29, 2010
Last update March 29, 2013
Version GDAP1 130329
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Genomic refseq ID NG_008787.2
Transcript refseq ID NM_018972.2
Total number of unique DNA variants reported 0
Total number of individuals with variant(s) 0
Total number of variants reported 0
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NOTE Variants involved in Inherited Peripheral Neuropathies are also collected by the IPNMDB.
All variants submitted here will be shared with the IPNMDB.

Graphical displays and utilities
Summary tables Summary of all sequence variants in the GDAP1 database, sorted by type of variant (with graphical displays and statistics)
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 15968
Entrez Gene 54332
OMIM - Gene 606598
OMIM - Disease #1 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A
OMIM - Disease #2 CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A
OMIM - Disease #3 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL
OMIM - Disease #4 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K
UniProtKB (SwissProt/TrEMBL) Q8TB36
External link IPNMDB - Inherited Peripheral Neuropathies Mutation DataBase