SPG7 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
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 NC_000016.9
Transcript reference NM_003119.2, NM_199367.1, XM_005256321.1
Associated with diseases SPG7
Citation reference(s) -
Curators (0) -
Total number of public variants reported 90
Unique public DNA variants reported 90
Individuals with public variants 0
Hidden variants 0
Download all this gene's data Download all data
Notes MSeqDR-LSDB
Date created November 07, 2013
Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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
HGNC 11237
Entrez Gene 6687
PubMed articles SPG7
OMIM - Gene 602783
OMIM - Diseases SPG7 (SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE)
HGMD SPG7
GeneCards SPG7
GeneTests SPG7


Active transcripts


ID     
Chr     
Name     
NCBI ID     
NCBI Protein ID     
DescendingVariants     
00000310 16 transcript variant 1 NM_003119.2 NP_003110.1 90
00000309 16 transcript variant X1 XM_005256321.1 XP_005256378.1 49
00000311 16 transcript variant 2 NM_199367.1 NP_955399.1 46


Copyright & disclaimer
Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com ; MitoPhenome http://mitophenome.org ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium

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