TXNL4A gene homepage

General information
Gene symbol TXNL4A
Gene name thioredoxin-like 4A
Chromosome 18
Chromosomal band q23
Imprinted Unknown
Genomic reference NC_000018.9
Transcript reference NM_006701.2
Exon/intron information NM_006701.2 exon/intron table
Associated with diseases BMKS
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 29
Unique public DNA variants reported 14
Individuals with public variants 80
Hidden variants 0
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 April 21, 2017
Version TXNL4A:170421

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_006701.2.
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/TXNL4A
HGNC 30551
Entrez Gene 10907
PubMed articles TXNL4A
OMIM - Gene 611595
OMIM - Diseases BMKS (Burn-McKeown syndrome (BMKS))
HGMD TXNL4A
GeneCards TXNL4A
GeneTests TXNL4A


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00022183 18 thioredoxin-like 4A NM_006701.2 NP_006692.1 29


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