CERS5 ceramide synthase 5
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 2 |
not provided | 1 | 0 |
Uncertain significance | 0 | 52 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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54 |
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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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Target data | : |
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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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MGeND data only
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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 | LASS5 |
SYNONYM | Trh4 |
MIM | 615335 OMIM |
HGNC | HGNC:23749 HGNC |
Ensembl | ENSG00000139624 Ensembl |
AllianceGenome | HGNC:23749 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000317551.12 | hg38 | chr12 | 50,129,289 | 50,167,369 | 38,081 |
ENST00000422340.6 | hg38 | chr12 | 50,129,306 | 50,167,533 | 38,228 |
ENST00000317551.12 | hg19 | chr12 | 50,523,072 | 50,561,152 | 38,081 |
ENST00000422340.6 | hg19 | chr12 | 50,523,089 | 50,561,316 | 38,228 |
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