PEDS1 plasmanylethanolamine desaturase 1
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
not provided | 1 | 0 |
Uncertain significance | 0 | 6 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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6 |
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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
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Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
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Target data | : |
MGeND data only
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Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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SYNONYM | CarF |
SYNONYM | KUA |
SYNONYM | TMEM189 |
MIM | 610994 OMIM |
HGNC | HGNC:16735 HGNC |
Ensembl | ENSG00000240849 Ensembl |
AllianceGenome | HGNC:16735 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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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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