MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
DLAT (dihydrolipoamide S-acetyltransferase)
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DLAT gene homepage
MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol
DLAT
Gene name
dihydrolipoamide S-acetyltransferase
Chromosome
11
Chromosomal band
q23.1
Imprinted
Unknown
Genomic reference
NC_000011.9
Transcript reference
NM_001931.4
Associated with diseases
PDHDD
Citation reference(s)
-
Curators (0)
-
Total number of public variants reported
14
Unique public DNA variants reported
13
Individuals with public variants
0
Hidden variants
0
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Notes
MSeqDR-LSDB
Date created
November 07, 2013
Graphical displays and utilities
Graphs
Graphs displaying summary information of all variants in the database
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UCSC Genome Browser
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Ensembl Genome Browser
Show variants in the Ensembl Genome Browser (
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NCBI Sequence Viewer
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NCBI Sequence Viewer
Links to other resources
HGNC
2896
Entrez Gene
1737
PubMed articles
DLAT
OMIM - Gene
608770
OMIM - Diseases
PDHDD (PYRUVATE DEHYDROGENASE E2 DEFICIENCY)
HGMD
DLAT
GeneCards
DLAT
GeneTests
DLAT
Active transcripts
Legend
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ID
Chr
Name
NCBI ID
NCBI Protein ID
Variants
00000094
11
dihydrolipoamide S-acetyltransferase
NM_001931.4
NP_001922.2
14
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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