HYLS1 HYLS1 centriolar and ciliogenesis associated
Information
- Symbol
- HYLS1
- Type
- protein-coding
- Description
- HYLS1 centriolar and ciliogenesis associated
- Entrez Gene ID
- 219844
- Genome
- hg19
- Position
- chr11:125,753,509-125,770,539
- Genome
- hg38
- Position
- chr11:125,883,614-125,900,644
- MIM
- 610693 OMIM
- HGNC
- HGNC:26558 HGNC
- Ensembl
- ENSG00000198331 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 20 |
| Likely pathogenic | 0 | 16 |
| Benign | 0 | 40 |
| Likely benign | 0 | 282 |
| Conflicting classifications of pathogenicity | 0 | 4 |
| no classification for the single variant | 0 | 2 |
| Uncertain significance | 0 | 216 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
72 |
 |
488 |
 |
8 |
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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| Category | : |
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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 | |||||||||||
Search Word
| Target data | : |
MGeND data only
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| Filtering | : |
| Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
Search Word
| Target data | : |
MGeND data only
|
| Category | : |
|
| Search word | : | |
| Filtering | : |
| 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 | HLS |
| MIM | 610693 OMIM |
| HGNC | HGNC:26558 HGNC |
| Ensembl | ENSG00000198331 Ensembl |
| AllianceGenome | HGNC:26558 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000526028.1 | hg38 | chr11 | 125,887,782 | 125,900,617 | 12,836 |
| ENST00000356438.7 | hg38 | chr11 | 125,883,614 | 125,900,644 | 17,031 |
| ENST00000425380.7 | hg38 | chr11 | 125,887,668 | 125,900,646 | 12,979 |
| ENST00000356438.7 | hg19 | chr11 | 125,753,509 | 125,770,539 | 17,031 |
| ENST00000425380.7 | hg19 | chr11 | 125,757,563 | 125,770,541 | 12,979 |
| ENST00000526028.1 | hg19 | chr11 | 125,757,677 | 125,770,512 | 12,836 |
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