P3H3 prolyl 3-hydroxylase 3

Information
Symbol
P3H3
Type
protein-coding
Description
prolyl 3-hydroxylase 3
Entrez Gene ID
10536
Genome
hg19
Position
chr12:6,937,572-6,949,011
Genome
hg38
Position
chr12:6,828,407-6,839,847
MIM
610342 OMIM
HGNC
HGNC:19318 HGNC
Ensembl
ENSG00000110811 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 6
Uncertain significance 0 30
Ranking
ClinVar
0
0
0
36
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 :
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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 :
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 GRCB
SYNONYM HSU47926
SYNONYM LEPREL2
MIM 610342 OMIM
HGNC HGNC:19318 HGNC
Ensembl ENSG00000110811 Ensembl
AllianceGenome HGNC:19318
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000290510.10 hg38 chr12 6,828,407 6,839,847 11,441
ENST00000290510.10 hg19 chr12 6,937,572 6,949,011 11,440
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