PTCHD1 patched domain containing 1

Information
Symbol
PTCHD1
Type
protein-coding
Description
patched domain containing 1
Entrez Gene ID
139411
Genome
hg19
Position
chrX:23,352,966-23,422,491
Genome
hg38
Position
chrX:23,334,849-23,404,374
MIM
300828 OMIM
HGNC
HGNC:26392 HGNC
Ensembl
ENSG00000165186 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 6
Likely pathogenic 0 36
Benign 0 32
Likely benign 0 76
Conflicting classifications of pathogenicity 0 26
not provided 6 0
risk factor 0 6
Uncertain significance 0 222
Ranking
ClinVar
0
0
42
304
20
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM AUTSX4
SYNONYM CXDELp22.11
SYNONYM DELXP22.11
MIM 300828 OMIM
HGNC HGNC:26392 HGNC
Ensembl ENSG00000165186 Ensembl
AllianceGenome HGNC:26392
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000379361.5 hg38 chrX 23,334,849 23,404,374 69,526
ENST00000379361.5 hg19 chrX 23,352,966 23,422,491 69,526
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