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MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol SPAST
Gene name spastin
Chromosome 2
Chromosomal band p24-p21
Imprinted Unknown
Genomic reference NC_000002.11
Transcript reference NM_014946.3, NM_199436.1, XM_005264516.1
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
Notes MSeqDR-LSDB
Date created November 12, 2013

Links to other resources
HGNC 11233
Entrez Gene 6683
PubMed articles SPAST
OMIM - Gene 604277
HGMD SPAST
GeneCards SPAST
GeneTests SPAST


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00001194 2 transcript variant X1 XM_005264516.1 XP_005264573.1 0
00001195 2 transcript variant 1 NM_014946.3 NP_055761.2 0
00001196 2 transcript variant 2 NM_199436.1 NP_955468.1 0


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Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium