P4HA3 prolyl 4-hydroxylase subunit alpha 3

Information
Symbol
P4HA3
Type
protein-coding
Description
prolyl 4-hydroxylase subunit alpha 3
Entrez Gene ID
283208
Genome
hg19
Position
chr11:73,977,702-74,022,685
Genome
hg38
Position
chr11:74,266,657-74,311,640
MIM
608987 OMIM
HGNC
HGNC:30135 HGNC
Ensembl
ENSG00000149380 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 60
Ranking
ClinVar
0
0
0
62
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
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
MIM 608987 OMIM
HGNC HGNC:30135 HGNC
Ensembl ENSG00000149380 Ensembl
AllianceGenome HGNC:30135
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000331597.9 hg38 chr11 74,266,657 74,311,640 44,984
ENST00000427714.2 hg38 chr11 74,266,657 74,311,640 44,984
ENST00000331597.9 hg19 chr11 73,977,702 74,022,685 44,984
ENST00000427714.2 hg19 chr11 73,977,702 74,022,685 44,984
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