SLC25A19 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol SLC25A19
Gene name solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
Chromosome 17
Chromosomal band q25.1
Imprinted Unknown
Genomic reference NC_000017.10
Transcript reference NM_001126121.1, NM_001126122.1, NM_021734.4
Associated with diseases MCPHA
Citation reference(s) -
Curators (0) -
Total number of public variants reported 22
Unique public DNA variants reported 21
Individuals with public variants 0
Hidden variants 0
Download all this gene's data Download all data
Notes MSeqDR-LSDB
Date created November 12, 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 14409
Entrez Gene 60386
PubMed articles SLC25A19
OMIM - Gene 606521
OMIM - Diseases MCPHA (Microcephaly, Amish type, 607196 (3))
HGMD SLC25A19
GeneCards SLC25A19
GeneTests SLC25A19


Active transcripts


ID     
Chr     
Name     
NCBI ID     
NCBI Protein ID     
DescendingVariants     
00001155 17 transcript variant 3 NM_001126122.1 NP_001119594.1 22
00001156 17 transcript variant 2 NM_021734.4 NP_068380.3 22
00001157 17 transcript variant 1 NM_001126121.1 NP_001119593.1 22


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

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium

  Powered by LOVD v.3.0 Build 21
LOVD software ©2004-2018 Leiden University Medical Center