The PTCH1 gene homepage

General information
Gene symbol PTCH1
Gene name patched 1
Chromosome 9
Chromosomal band q22.1-q31
Imprinted Unknown
Genomic reference NG_007664.1
Transcript reference NM_000264.3
Exon/intron information NM_000264.3 exon/intron table
Associated with diseases BCC1, BCNS, HPE7, KCOT, ODA
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Hans Gille and Michel van Geel
Total number of public variants reported 723
Unique public DNA variants reported 561
Individuals with public variants 865
Hidden variants 30
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created April 29, 2010
Date last updated May 09, 2022
Version PTCH1:220509

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_000264.3.
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
HGNC 9585
Entrez Gene 5727
PubMed articles PTCH1
OMIM - Gene 601309
OMIM - Diseases BCC1 (carcinoma, basal cell, susceptibility to, type 1 (BCC-1))
BCNS (basal cell nevus syndrome (BCNS, Gorlin-Goltz syndrome))
HPE7 (holoprosencephaly, type 7 (HPE-7))
GeneCards PTCH1
GeneTests PTCH1
Orphanet PTCH1

Active transcripts




NCBI ID     

NCBI Protein ID     

00017082 9 transcript variant 1b NM_000264.3 NP_000255.2 723

Copyright & disclaimer
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