KLHL8 kelch like family member 8
Clinical Significance
MGeND | ClinVar | |
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Uncertain significance | 0 | 46 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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46 |
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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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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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MIM | 611967 OMIM |
HGNC | HGNC:18644 HGNC |
Ensembl | ENSG00000145332 Ensembl |
AllianceGenome | HGNC:18644 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000273963.10 | hg38 | chr4 | 87,160,103 | 87,220,618 | 60,516 |
ENST00000512111.1 | hg38 | chr4 | 87,162,522 | 87,220,268 | 57,747 |
ENST00000425278.6 | hg38 | chr4 | 87,161,043 | 87,220,525 | 59,483 |
ENST00000498875.6 | hg38 | chr4 | 87,160,249 | 87,220,536 | 60,288 |
ENST00000273963.10 | hg19 | chr4 | 88,081,255 | 88,141,770 | 60,516 |
ENST00000498875.6 | hg19 | chr4 | 88,081,401 | 88,141,688 | 60,288 |
ENST00000425278.6 | hg19 | chr4 | 88,082,195 | 88,141,677 | 59,483 |
ENST00000512111.1 | hg19 | chr4 | 88,083,674 | 88,141,420 | 57,747 |
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