PTCH2 patched 2

Information
Symbol
PTCH2
Type
protein-coding
Description
patched 2
Entrez Gene ID
8643
Genome
hg19
Position
chr1:45,287,610-45,308,925
Genome
hg38
Position
chr1:44,821,938-44,843,253
MIM
603673 OMIM
HGNC
HGNC:9586 HGNC
Ensembl
ENSG00000117425 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 4
Likely pathogenic 2 2
Benign 26 124
Likely benign 2 684
Conflicting classifications of pathogenicity 0 26
not provided 19 0
Uncertain significance 25 1,066
Ranking
ClinVar
0
0
318
1,508
10
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 PTC2
MIM 603673 OMIM
HGNC HGNC:9586 HGNC
Ensembl ENSG00000117425 Ensembl
AllianceGenome HGNC:9586
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000447098.6 hg38 chr1 44,819,844 44,842,944 23,101
ENST00000372192.4 hg38 chr1 44,821,938 44,843,253 21,316
ENST00000447098.6 hg19 chr1 45,285,516 45,308,616 23,101
ENST00000372192.4 hg19 chr1 45,287,610 45,308,925 21,316
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