DNM1L gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol DNM1L
Gene name dynamin 1-like
Chromosome 12
Chromosomal band p11.21
Imprinted Unknown
Genomic reference NC_000012.11
Transcript reference NM_001278463.1, NM_001278464.1, NM_001278465.1, NM_001278466.1, NM_005690.4, NM_012062.4, NM_012063.3, XM_005253282.1, XM_005253283.1
Associated with diseases 614388
Citation reference(s) -
Curators (0) -
Total number of public variants reported 24
Unique public DNA variants reported 24
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 2973
Entrez Gene 10059
PubMed articles DNM1L
OMIM - Gene 603850
OMIM - Diseases 614388 (Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 614388 (3))
HGMD DNM1L
GeneCards DNM1L
GeneTests DNM1L


Active transcripts


ID     
Chr     
Name     
NCBI ID     
NCBI Protein ID     
DescendingVariants     
00000103 12 transcript variant 5 NM_001278464.1 NP_001265393.1 24
00000104 12 transcript variant 6 NM_001278465.1 NP_001265394.1 24
00000105 12 transcript variant 7 NM_001278466.1 NP_001265395.1 24
00000106 12 transcript variant 1 NM_012062.4 NP_036192.2 24
00000107 12 transcript variant 4 NM_001278463.1 NP_001265392.1 24
00000108 12 transcript variant 2 NM_012063.3 NP_036193.2 24
00000109 12 transcript variant 3 NM_005690.4 NP_005681.2 24
00000110 12 transcript variant X1 XM_005253282.1 XP_005253339.1 24
00000111 12 transcript variant X2 XM_005253283.1 XP_005253340.1 24


Copyright & disclaimer
Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium

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