GOLGA5 golgin A5
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely benign | 0 | 6 |
| not provided | 8 | 0 |
| Uncertain significance | 1 | 68 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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0 |
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74 |
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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
Locus Zoom
Variants
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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
| 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 | GOLIM5 |
| SYNONYM | RFG5 |
| SYNONYM | ret-II |
| MIM | 606918 OMIM |
| HGNC | HGNC:4428 HGNC |
| Ensembl | ENSG00000066455 Ensembl |
| AllianceGenome | HGNC:4428 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000163416.7 | hg38 | chr14 | 92,794,305 | 92,839,947 | 45,643 |
| ENST00000163416.7 | hg19 | chr14 | 93,260,650 | 93,306,292 | 45,643 |
| Key | Value |
|---|---|
| strand | + |
| start | 93,260,575 |
| Gene Symbol | GOLGA5 |
| Entrez GeneId | 9,950 |
| Chr Band | 14q |
| end | 93,306,305 |
| chr | chr14 |
| Name | golgi autoantigen, golgin subfamily a, 5 (PTC5) |
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