CERS4 ceramide synthase 4
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 2 |
Likely benign | 0 | 6 |
Uncertain significance | 0 | 54 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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62 |
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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
[No Data.]
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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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 | LASS4 |
SYNONYM | Trh1 |
MIM | 615334 OMIM |
HGNC | HGNC:23747 HGNC |
Ensembl | ENSG00000090661 Ensembl |
AllianceGenome | HGNC:23747 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000559336.5 | hg38 | chr19 | 8,209,371 | 8,262,421 | 53,051 |
ENST00000251363.10 | hg38 | chr19 | 8,209,370 | 8,262,421 | 53,052 |
ENST00000558331.5 | hg38 | chr19 | 8,209,313 | 8,262,421 | 53,109 |
ENST00000559450.5 | hg38 | chr19 | 8,209,356 | 8,262,421 | 53,066 |
ENST00000558331.5 | hg19 | chr19 | 8,274,197 | 8,327,305 | 53,109 |
ENST00000559450.5 | hg19 | chr19 | 8,274,240 | 8,327,305 | 53,066 |
ENST00000251363.10 | hg19 | chr19 | 8,274,254 | 8,327,305 | 53,052 |
ENST00000559336.5 | hg19 | chr19 | 8,274,255 | 8,327,305 | 53,051 |
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