HYKK hydroxylysine kinase
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely benign | 0 | 4 |
| Uncertain significance | 0 | 36 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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0 |
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40 |
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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 | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
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| Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
Search Word
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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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | AGPHD1 |
| MIM | 614681 OMIM |
| HGNC | HGNC:34403 HGNC |
| Ensembl | ENSG00000188266 Ensembl |
| AllianceGenome | HGNC:34403 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000566332.5 | hg38 | chr15 | 78,507,617 | 78,528,264 | 20,648 |
| ENST00000408962.6 | hg38 | chr15 | 78,507,564 | 78,537,372 | 29,809 |
| ENST00000388988.9 | hg38 | chr15 | 78,507,577 | 78,536,645 | 29,069 |
| ENST00000569878.5 | hg38 | chr15 | 78,513,089 | 78,536,645 | 23,557 |
| ENST00000563233.2 | hg38 | chr15 | 78,513,089 | 78,537,372 | 24,284 |
| ENST00000408962.6 | hg19 | chr15 | 78,799,906 | 78,829,714 | 29,809 |
| ENST00000388988.9 | hg19 | chr15 | 78,799,919 | 78,828,987 | 29,069 |
| ENST00000566332.5 | hg19 | chr15 | 78,799,959 | 78,820,606 | 20,648 |
| ENST00000569878.5 | hg19 | chr15 | 78,805,431 | 78,828,987 | 23,557 |
| ENST00000563233.2 | hg19 | chr15 | 78,805,431 | 78,829,714 | 24,284 |
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