The PIGK gene homepage

General information
Gene symbol PIGK
Gene name phosphatidylinositol glycan anchor biosynthesis, class K
Chromosome 1
Chromosomal band p31.1
Imprinted Unknown
Genomic reference NC_000001.10
Transcript reference NM_005482.2
Exon/intron information NM_005482.2 exon/intron table
Associated with diseases NEDHCAS
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Philippe Campeau
Total number of public variants reported 22
Unique public DNA variants reported 13
Individuals with public variants 15
Hidden variants -
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.
Date created September 13, 2012
Date last updated May 05, 2025
Version PIGK:250505

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_005482.2.
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/PIGK
HGNC HGNC:8965
Entrez Gene 10026
PubMed articles PIGK
OMIM - Gene 605087
OMIM - Diseases NEDHCAS (neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures)
HGMD PIGK
GeneCards PIGK
NIH Genetic Testing Registry PIGK
Orphanet PIGK


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00001198 1 phosphatidylinositol glycan anchor biosynthesis, class K NM_005482.2 NP_005473.1 22


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