ETNPPL ethanolamine-phosphate phospho-lyase

Information
Symbol
ETNPPL
Type
protein-coding
Description
ethanolamine-phosphate phospho-lyase
Entrez Gene ID
64850
Genome
hg19
Position
chr4:109,663,209-109,684,209
Genome
hg38
Position
chr4:108,742,053-108,763,053
MIM
614682 OMIM
HGNC
HGNC:14404 HGNC
Ensembl
ENSG00000164089 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 4
Uncertain significance 0 38
Ranking
ClinVar
0
0
0
42
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 :
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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 AGXT2L1
MIM 614682 OMIM
HGNC HGNC:14404 HGNC
Ensembl ENSG00000164089 Ensembl
AllianceGenome HGNC:14404
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000512646.5 hg38 chr4 108,742,392 108,762,964 20,573
ENST00000510706.5 hg38 chr4 108,742,469 108,763,053 20,585
ENST00000411864.6 hg38 chr4 108,742,048 108,763,008 20,961
ENST00000296486.8 hg38 chr4 108,742,053 108,763,053 21,001
ENST00000411864.6 hg19 chr4 109,663,204 109,684,164 20,961
ENST00000296486.8 hg19 chr4 109,663,209 109,684,209 21,001
ENST00000512646.5 hg19 chr4 109,663,548 109,684,120 20,573
ENST00000510706.5 hg19 chr4 109,663,625 109,684,209 20,585
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