The SPG7 gene homepage

A database from the MITOchondrial DYNamics variation portal.
General information
Gene symbol SPG7
Gene name spastic paraplegia 7 (pure and complicated autosomal recessive)
Chromosome 16
Chromosomal band q24.3
Imprinted Unknown
Genomic reference NG_008082.1
Transcript reference NM_003119.2
Exon/intron information NM_003119.2 exon/intron table
Associated with diseases neuropathy, optic, SPG7
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Marc Ferre
Total number of public variants reported 218
Unique public DNA variants reported 148
Individuals with public variants 138
Hidden variants 16
Download all this gene's data Download all data
Notes A database from the MITOchondrial DYNamics variation portal.
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated November 17, 2022
Version SPG7:221117

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_003119.2.
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
HGNC 11237
Entrez Gene 6687
PubMed articles SPG7
OMIM - Gene 602783
OMIM - Diseases SPG7 (paraplegia, spastic, autosomal recessive, type 7 (SPG-7))
GeneCards SPG7
GeneTests SPG7
Orphanet SPG7

Active transcripts




NCBI ID     

NCBI Protein ID     

00020169 16 transcript variant 1 NM_003119.2 NP_003110.1 218

Copyright & disclaimer
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