View GPHN gene homepage

General information
Gene symbol GPHN
Gene name gephyrin
Chromosome 14
Chromosomal band q23.3
Imprinted Unknown
Genomic reference NG_008875.1
Transcript reference NM_020806.4
Associated with diseases ID, Hyperekplexia hereditary, Molybdenum cofactor deficiency, complementation group C
Citation reference(s) -
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 0
Unique public DNA variants reported 0
Individuals with public variants 0
Hidden variants 0
Date created May 03, 2013

Links to other resources
HGNC 15465
Entrez Gene 10243
PubMed articles GPHN
OMIM - Gene 603930
OMIM - Diseases Hyperekplexia hereditary
Molybdenum cofactor deficiency, complementation group C

Active transcripts




NCBI ID     

NCBI Protein ID     

00008769 14 transcript variant 1 NM_020806.4 NP_065857.1 0