The PLCB1 gene homepage

General information
Gene symbol PLCB1
Gene name phospholipase C, beta 1 (phosphoinositide-specific)
Chromosome 20
Chromosomal band p12
Imprinted Unknown
Genomic reference NG_028168.1
Transcript reference NM_015192.2, NM_182734.1, XM_005260681.2
Associated with diseases EIEE-12, ID
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 278
Unique public DNA variants reported 27
Individuals with public variants 35
Hidden variants 338
Date created November 30, -0001
Date last updated September 28, 2016
Version PLCB1:160928

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:15917
Entrez Gene 23236
PubMed articles PLCB1
OMIM - Gene 607120
OMIM - Diseases EIEE-12 (encephalopathy, epileptic, early infantile, type 12 (EIEE-12))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00018828 20 Manually created transcript. (expired, new version available) NM_015192.2 - 278
00018829 20 Manually created transcript. (expired, new version available) NM_182734.1 - 278
00041737 20 transcript variant X1 XM_005260681.2 XP_005260738.1 -