MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
GPHN (gephyrin)
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GPHN gene homepage
MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol
GPHN
Gene name
gephyrin
Chromosome
14
Chromosomal band
q23.3
Imprinted
Unknown
Genomic reference
NC_000014.8
Transcript reference
NM_001024218.1
,
NM_020806.4
Associated with diseases
-
Citation reference(s)
-
Curators (0)
-
Total number of public variants reported
0
Unique public DNA variants reported
0
Individuals with public variants
0
Hidden variants
0
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Notes
MSeqDR-LSDB
Date created
November 12, 2013
Links to other resources
HGNC
15465
Entrez Gene
10243
PubMed articles
GPHN
OMIM - Gene
603930
HGMD
GPHN
GeneCards
GPHN
GeneTests
GPHN
Active transcripts
Legend
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ID
Chr
Name
NCBI ID
NCBI Protein ID
Variants
00000782
14
transcript variant 1
NM_020806.4
NP_065857.1
0
00000783
14
transcript variant 2
NM_001024218.1
NP_001019389.1
0
Copyright & disclaimer
; NuclearMitome http://www.transgenomic.com
Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium
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