The C1GALT1C1 gene homepage

General information
Gene symbol C1GALT1C1
Gene name C1GALT1-specific chaperone 1
Chromosome X
Chromosomal band q24
Imprinted Unknown
Genomic reference NG_016219.1
Transcript reference NM_001011551.2, NM_152692.4
Associated with diseases TNPS
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 6
Unique public DNA variants reported 2
Individuals with public variants 6
Hidden variants -
Date created November 30, -0001
Date last updated September 20, 2016
Version C1GALT1C1:160920

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
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:24338
Entrez Gene 29071
PubMed articles C1GALT1C1
OMIM - Gene 300611
OMIM - Diseases TNPS (Tn polyagglutination syndrome (TNPS))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00029334 X transcript variant 2 NM_001011551.2 NP_001011551.1 6
00029335 X transcript variant 1 NM_152692.4 NP_689905.1 6