Variant Details for PTCHD1

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Basic Information Top

Gene Symbol:	PTCHD1 ( FLJ30296,MGC149798 )
Gene Full Name:	patched domain containing 1
Band:	Xp22.11
Quick Links	Entrez ID:139411; OMIM: NA; Uniprot ID:PTHD1_HUMAN; ENSEMBL ID: ENSG00000165186; HGNC ID: 26392
Relate to Another Database:	SFARIGene; denovo-db

Variant Statistic Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default. Chromosome coordinates: hg19

Genetic Category	CNVs/SVs	de novo Mutations	Mosaics SNVs	NGS Other Mutations	Low-Scale Gene Mutations	Linkage Regions	Total
Number	19	0	0	1	3	0	23

CNVs/SVs Top

CNV ID	Chr	Band	Start	End	Size	Gain/Loss	UCSC Browser	Reference
AutCNV0000961	X	Xp22.11	23206267	23370707	164440	loss	external link	Pinto, 2010
AutCNV0000671	X	Xp22.1-p22.3	6644160	24159444	17515284	loss	external link	Vazna, 2010
AutCNV0000713	X	Xp11.2-p22.33	60000	56583275	56523275	gain	external link	Edens, 2011
AutCNV0005069	X		23110934	23411163	300229	loss	external link	Chaudhry A, 2015
AutCNV0005068	X		23237006	23383352	146346	loss	external link	Chaudhry A, 2015
AutCNV0005067	X		22561238	23362476	801238	loss	external link	Chaudhry A, 2015
AutCNV0005077	X		22395639	23358413	962774	loss	external link	Chaudhry A, 2015
AutCNV0005066	X		23273223	23470504	197281	loss	external link	Chaudhry A, 2015
AutCNV0005076	X		23196328	23525343	329015	loss	external link	Chaudhry A, 2015
AutCNV0005065	X		154772341	154775951	3610	loss	external link	Addis L, 2015
AutCNV0005075	X		22686771	23354655	667884	loss	external link	Chaudhry A, 2015
AutCNV0005074	X		23164422	23576232	411810	loss	external link	Chaudhry A, 2015
AutCNV0005073	X		23331184	23604246	273062	loss	external link	Chaudhry A, 2015
AutCNV0005072	X		22960743	23463337	502594	loss	external link	Chaudhry A, 2015
AutCNV0005071	X		23204258	23371802	167544	loss	external link	Chaudhry A, 2015
AutCNV0005070	X		23329087	23419289	90202	loss	external link	Chaudhry A, 2015