L3HYPDH trans-L-3-hydroxyproline dehydratase

Information
Symbol
L3HYPDH
Type
protein-coding
Description
trans-L-3-hydroxyproline dehydratase
Entrez Gene ID
112849
Genome
hg19
Position
chr14:59,939,324-59,951,126
Genome
hg38
Position
chr14:59,472,606-59,484,408
MIM
614811 OMIM
HGNC
HGNC:20488 HGNC
Ensembl
ENSG00000126790 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Uncertain significance 0 54
Ranking
ClinVar
0
0
0
54
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 :
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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 C14orf149
MIM 614811 OMIM
HGNC HGNC:20488 HGNC
Ensembl ENSG00000126790 Ensembl
AllianceGenome HGNC:20488
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000487285.5 hg38 chr14 59,474,454 59,483,685 9,232
ENST00000247194.9 hg38 chr14 59,472,606 59,484,408 11,803
ENST00000247194.9 hg19 chr14 59,939,324 59,951,126 11,803
ENST00000487285.5 hg19 chr14 59,941,172 59,950,403 9,232
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