PEDS1 plasmanylethanolamine desaturase 1

Information
Symbol
PEDS1
Type
protein-coding
Description
plasmanylethanolamine desaturase 1
Entrez Gene ID
387521
Genome
hg19
Position
chr20:48,734,791-48,770,260
Genome
hg38
Position
chr20:50,118,254-50,153,723
MIM
610994 OMIM
HGNC
HGNC:16735 HGNC
Ensembl
ENSG00000240849 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
not provided 1 0
Uncertain significance 0 6
Ranking
ClinVar
0
0
0
6
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
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 CarF
SYNONYM KUA
SYNONYM TMEM189
MIM 610994 OMIM
HGNC HGNC:16735 HGNC
Ensembl ENSG00000240849 Ensembl
AllianceGenome HGNC:16735
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000371650.9 hg38 chr20 50,123,737 50,153,734 29,998
ENST00000371652.9 hg38 chr20 50,118,254 50,153,723 35,470
ENST00000371656.3 hg38 chr20 50,123,770 50,131,132 7,363
ENST00000371652.9 hg19 chr20 48,734,791 48,770,260 35,470
ENST00000371650.9 hg19 chr20 48,740,274 48,770,271 29,998
ENST00000371656.3 hg19 chr20 48,740,307 48,747,669 7,363
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