GDAP1 homepage - Leiden Muscular Dystrophy pages - Leiden Open Variation Database

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
Add sequence variant	Submit a sequence variant
First time submitters	Register here
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

Leiden Muscular Dystrophy pages