PTCH1 gene homepage

General information
Gene symbol PTCH1
Gene name patched 1
Chromosome 9
Chromosomal band q22.32
Imprinted Unknown
Genomic reference LRG_515
Transcript reference NM_000264.3, NM_001083602.1, NM_001083603.1, NM_001083604.1, NM_001083605.1, NM_001083606.1, NM_001083607.1
Associated with diseases BCNS, HPE7
Citation reference(s) -
Curators (1) Despoina Kalfakakou
Total number of public variants reported 378
Unique public DNA variants reported 136
Individuals with public variants 432
Hidden variants 0
Date created May 20, 2020
Date last updated May 17, 2022
Version PTCH1:220517

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
HGNC 9585
Entrez Gene 5727
PubMed articles PTCH1
OMIM - Gene 601309
OMIM - Diseases BCNS (Basal cell nevus syndrome)
HPE7 (Holoprosencephaly 7)

Active transcripts




NCBI ID     

NCBI Protein ID     

00000170 9 transcript variant 1a NM_001083602.1 NP_001077071.1 378
00000171 9 transcript variant 1a' NM_001083603.1 NP_001077072.1 378
00000172 9 transcript variant 1b NM_000264.3 NP_000255.2 370
00000173 9 transcript variant 1c NM_001083604.1 NP_001077073.1 370
00000174 9 transcript variant 1c' NM_001083605.1 NP_001077074.1 370
00000175 9 transcript variant 1d NM_001083606.1 NP_001077075.1 370
00000176 9 transcript variant 1e NM_001083607.1 NP_001077076.1 370

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