The PTCHD1 gene homepage

General information
Gene symbol PTCHD1
Gene name patched domain containing 1
Chromosome X
Chromosomal band p22.13
Imprinted Unknown
Genomic reference NG_021300.1
Transcript reference NM_173495.2
Associated with diseases ID
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 20
Unique public DNA variants reported 3
Individuals with public variants 18
Hidden variants 11
Date created November 30, -0001
Date last updated September 23, 2016
Version PTCHD1:160923

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:26392
Entrez Gene 139411
PubMed articles PTCHD1
OMIM - Gene 300828


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00013655 X patched domain containing 1 NM_173495.2 NP_775766.2 20