The CHST14 gene homepage

Ehlers Danlos Syndrome Variant Database


General information
Gene symbol CHST14
Gene name carbohydrate sulfotransferase 14
Chromosome 15
Chromosomal band q15.1
Imprinted Unknown
Genomic reference NG_017074.1
Transcript reference NM_130468.3
Exon/intron information NM_130468.3 exon/intron table
Associated with diseases EDSMC, EDSMC1
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Raymond Dalgleish
Total number of public variants reported 54
Unique public DNA variants reported 35
Individuals with public variants 37
Hidden variants 1
Download all this gene's data Download all data
Date created October 15, 2012
Date last updated April 19, 2024
Version CHST14:240419

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_130468.3.
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/CHST14
HGNC 24464
Entrez Gene 113189
PubMed articles CHST14
OMIM - Gene 608429
OMIM - Diseases EDSMC1 (Ehlers-Danlos, musculocontractural syndrome, type 1 (EDSMC1 EDSVIB EDS6B))
HGMD CHST14
GeneCards CHST14
GeneTests CHST14
Orphanet CHST14


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00005169 15 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14 NM_130468.3 NP_569735.1 54


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