PTCD3 pentatricopeptide repeat domain 3

Information
Symbol
PTCD3
Type
protein-coding
Description
pentatricopeptide repeat domain 3
Entrez Gene ID
55037
Genome
hg19
Position
chr2:86,333,358-86,369,280
Genome
hg38
Position
chr2:86,106,235-86,142,157
MIM
614918 OMIM
HGNC
HGNC:24717 HGNC
Ensembl
ENSG00000132300 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 6
Likely pathogenic 0 8
Benign 0 4
Likely benign 0 12
Conflicting classifications of pathogenicity 0 2
Uncertain significance 0 96
Ranking
ClinVar
0
0
2
118
6
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
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 COXPD51
SYNONYM MRP-S39
SYNONYM mS39
MIM 614918 OMIM
HGNC HGNC:24717 HGNC
Ensembl ENSG00000132300 Ensembl
AllianceGenome HGNC:24717
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000254630.12 hg38 chr2 86,106,235 86,142,157 35,923
ENST00000627371.1 hg38 chr2 86,106,248 86,110,993 4,746
ENST00000254630.12 hg19 chr2 86,333,358 86,369,280 35,923
ENST00000627371.1 hg19 chr2 86,333,371 86,338,116 4,746
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