P4HTM prolyl 4-hydroxylase, transmembrane

Information
Symbol
P4HTM
Type
protein-coding
Description
prolyl 4-hydroxylase, transmembrane
Entrez Gene ID
54681
Genome
hg19
Position
chr3:49,027,322-49,044,548
Genome
hg38
Position
chr3:48,989,889-49,007,115
MIM
614584 OMIM
HGNC
HGNC:28858 HGNC
Ensembl
ENSG00000178467 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 12
Likely pathogenic 0 4
Benign 0 2
Likely benign 0 20
Uncertain significance 0 82
Ranking
ClinVar
0
0
4
108
8
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 EGLN4
SYNONYM HIDEA
SYNONYM HIFPH4
SYNONYM P4H-TM
SYNONYM PH-4
SYNONYM PH4
SYNONYM PHD4
MIM 614584 OMIM
HGNC HGNC:28858 HGNC
Ensembl ENSG00000178467 Ensembl
AllianceGenome HGNC:28858
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000383729.9 hg38 chr3 48,990,241 49,007,153 16,913
ENST00000343546.8 hg38 chr3 48,989,889 49,007,115 17,227
ENST00000343546.8 hg19 chr3 49,027,322 49,044,548 17,227
ENST00000383729.9 hg19 chr3 49,027,674 49,044,586 16,913
Genome browser