PTCH1 gene homepage - CanVaS - A Greek Cancer Patient Genetic Variation Resource

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CanVaS - A Greek Cancer Patient Genetic Variation Resource

PTCH1 (patched 1)

LOVD v.3.0 Build 23 [ Current LOVD status ]
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	Curator: Despoina Kalfakakou

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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

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
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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