HYAL2 hyaluronidase 2
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 2 | 6 |
| Likely pathogenic | 0 | 12 |
| Benign | 0 | 6 |
| Likely benign | 0 | 16 |
| Uncertain significance | 0 | 70 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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4 |
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86 |
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18 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
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 | |||||||||||
Search Word
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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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
Search Word
| Target data | : |
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 | LUCA2 |
| MIM | 603551 OMIM |
| HGNC | HGNC:5321 HGNC |
| Ensembl | ENSG00000068001 Ensembl |
| AllianceGenome | HGNC:5321 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000357750.9 | hg38 | chr3 | 50,317,808 | 50,322,745 | 4,938 |
| ENST00000442581.1 | hg38 | chr3 | 50,317,812 | 50,322,777 | 4,966 |
| ENST00000395139.7 | hg38 | chr3 | 50,317,809 | 50,321,713 | 3,905 |
| ENST00000447092.5 | hg38 | chr3 | 50,317,790 | 50,322,782 | 4,993 |
| ENST00000447092.5 | hg19 | chr3 | 50,355,221 | 50,360,213 | 4,993 |
| ENST00000357750.9 | hg19 | chr3 | 50,355,239 | 50,360,176 | 4,938 |
| ENST00000395139.7 | hg19 | chr3 | 50,355,240 | 50,359,144 | 3,905 |
| ENST00000442581.1 | hg19 | chr3 | 50,355,243 | 50,360,208 | 4,966 |
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