KLHL14 kelch like family member 14
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
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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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
[No Data.]
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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 | 613772 OMIM |
HGNC | HGNC:29266 HGNC |
Ensembl | ENSG00000197705 Ensembl |
AllianceGenome | HGNC:29266 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000358095.4 | hg38 | chr18 | 32,733,687 | 32,772,879 | 39,193 |
ENST00000359358.9 | hg38 | chr18 | 32,672,673 | 32,773,023 | 100,351 |
ENST00000359358.9 | hg19 | chr18 | 30,252,636 | 30,352,986 | 100,351 |
ENST00000358095.4 | hg19 | chr18 | 30,313,650 | 30,352,842 | 39,193 |
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