The SLC25A19 gene homepage

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 NG_008274.1
Transcript reference NM_021734.4
Exon/intron information NM_021734.4 exon/intron table
Associated with diseases MCPHA, THMD4
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 32
Unique public DNA variants reported 22
Individuals with public variants 31
Hidden variants -
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated May 09, 2022
Version SLC25A19:220509

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_021734.4.
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
Homepage URL https://www.LOVD.nl/SLC25A19
HGNC 14409
Entrez Gene 60386
PubMed articles SLC25A19
OMIM - Gene 606521
OMIM - Diseases MCPHA (microcephaly, Amish type (MCPHA))
THMD4 (Thiamine metabolism dysfunction syndrome, type 4 (THMD-4))
HGMD SLC25A19
GeneCards SLC25A19
GeneTests SLC25A19
Orphanet SLC25A19


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00019201 17 transcript variant 2 NM_021734.4 NP_068380.3 32


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