YPEL5 yippee like 5
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Uncertain significance | 0 | 8 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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8 |
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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
Search Word
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MGeND data only
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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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Category | : |
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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 | CGI-127 |
MIM | 609726 OMIM |
HGNC | HGNC:18329 HGNC |
Ensembl | ENSG00000119801 Ensembl |
AllianceGenome | HGNC:18329 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000402708.5 | hg38 | chr2 | 30,147,516 | 30,159,551 | 12,036 |
ENST00000261353.9 | hg38 | chr2 | 30,147,007 | 30,160,533 | 13,527 |
ENST00000379519.7 | hg38 | chr2 | 30,146,941 | 30,160,533 | 13,593 |
ENST00000379520.7 | hg38 | chr2 | 30,146,941 | 30,160,533 | 13,593 |
ENST00000402003.7 | hg38 | chr2 | 30,147,007 | 30,160,533 | 13,527 |
ENST00000379520.7 | hg19 | chr2 | 30,369,807 | 30,383,399 | 13,593 |
ENST00000379519.7 | hg19 | chr2 | 30,369,807 | 30,383,399 | 13,593 |
ENST00000261353.9 | hg19 | chr2 | 30,369,873 | 30,383,399 | 13,527 |
ENST00000402003.7 | hg19 | chr2 | 30,369,873 | 30,383,399 | 13,527 |
ENST00000402708.5 | hg19 | chr2 | 30,370,382 | 30,382,417 | 12,036 |
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