YPEL1 yippee like 1
Clinical Significance
MGeND | ClinVar | |
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Uncertain significance | 0 | 4 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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4 |
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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
Target data | : |
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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Target data | : |
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 |
Search Word
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 | FKSG3 |
MIM | 608082 OMIM |
HGNC | HGNC:12845 HGNC |
Ensembl | ENSG00000100027 Ensembl |
AllianceGenome | HGNC:12845 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000403503.1 | hg38 | chr22 | 21,704,082 | 21,735,755 | 31,674 |
ENST00000339468.8 | hg38 | chr22 | 21,697,536 | 21,735,794 | 38,259 |
ENST00000672036.2 | hg38 | chr22 | 21,701,129 | 21,710,849 | 9,721 |
ENST00000339468.8 | hg19 | chr22 | 22,051,825 | 22,090,083 | 38,259 |
ENST00000672036.2 | hg19 | chr22 | 22,055,418 | 22,065,138 | 9,721 |
ENST00000403503.1 | hg19 | chr22 | 22,058,371 | 22,090,044 | 31,674 |
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