HBS1L HBS1 like translational GTPase
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 6 |
| Likely benign | 0 | 4 |
| Uncertain significance | 2 | 44 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
54 |
 |
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
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 | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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
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| Category | : |
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| 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 | EF-1a |
| SYNONYM | ERFS |
| SYNONYM | HBS1 |
| SYNONYM | HSPC276 |
| SYNONYM | eRF3c |
| MIM | 612450 OMIM |
| HGNC | HGNC:4834 HGNC |
| Ensembl | ENSG00000112339 Ensembl |
| AllianceGenome | HGNC:4834 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000415177.6 | hg38 | chr6 | 134,964,631 | 135,054,819 | 90,189 |
| ENST00000367826.6 | hg38 | chr6 | 134,964,633 | 135,054,819 | 90,187 |
| ENST00000367822.9 | hg38 | chr6 | 135,035,857 | 135,054,884 | 19,028 |
| ENST00000367820.6 | hg38 | chr6 | 135,036,696 | 135,054,800 | 18,105 |
| ENST00000314674.7 | hg38 | chr6 | 135,002,621 | 135,054,803 | 52,183 |
| ENST00000525067.1 | hg38 | chr6 | 135,037,849 | 135,054,852 | 17,004 |
| ENST00000527578.5 | hg38 | chr6 | 134,964,629 | 135,027,196 | 62,568 |
| ENST00000367837.10 | hg38 | chr6 | 134,960,378 | 135,054,822 | 94,445 |
| ENST00000367837.10 | hg19 | chr6 | 135,281,516 | 135,375,960 | 94,445 |
| ENST00000527578.5 | hg19 | chr6 | 135,285,767 | 135,348,334 | 62,568 |
| ENST00000415177.6 | hg19 | chr6 | 135,285,769 | 135,375,957 | 90,189 |
| ENST00000367826.6 | hg19 | chr6 | 135,285,771 | 135,375,957 | 90,187 |
| ENST00000314674.7 | hg19 | chr6 | 135,323,759 | 135,375,941 | 52,183 |
| ENST00000367822.9 | hg19 | chr6 | 135,356,995 | 135,376,022 | 19,028 |
| ENST00000367820.6 | hg19 | chr6 | 135,357,834 | 135,375,938 | 18,105 |
| ENST00000525067.1 | hg19 | chr6 | 135,358,987 | 135,375,990 | 17,004 |
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