P3H4 prolyl 3-hydroxylase family member 4 (inactive)

Information
Symbol
P3H4
Type
protein-coding
Description
prolyl 3-hydroxylase family member 4 (inactive)
Entrez Gene ID
10609
Genome
hg19
Position
chr17:39,958,199-39,968,855
Genome
hg38
Position
chr17:41,801,947-41,812,603
MIM
617419 OMIM
HGNC
HGNC:16946 HGNC
Ensembl
ENSG00000141696 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 6
Uncertain significance 0 70
Ranking
ClinVar
0
0
0
78
0
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
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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 :
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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 :
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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 LEPREL4
SYNONYM NO55
SYNONYM NOL55
SYNONYM SC65
MIM 617419 OMIM
HGNC HGNC:16946 HGNC
Ensembl ENSG00000141696 Ensembl
AllianceGenome HGNC:16946
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000355468.7 hg38 chr17 41,801,947 41,812,603 10,657
ENST00000393928.6 hg38 chr17 41,801,953 41,811,949 9,997
ENST00000355468.7 hg19 chr17 39,958,199 39,968,855 10,657
ENST00000393928.6 hg19 chr17 39,958,205 39,968,201 9,997
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