GARIN1A golgi associated RAB2 interactor 1A
Information
- Symbol
- GARIN1A
- Type
- protein-coding
- Description
- golgi associated RAB2 interactor 1A
- Entrez Gene ID
- 346653
- Genome
- hg19
- Position
- chr7:128,312,346-128,327,926
- Genome
- hg38
- Position
- chr7:128,672,292-128,687,872
- MIM
- 619904 OMIM
- HGNC
- HGNC:27998 HGNC
- Ensembl
- ENSG00000205085 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely benign | 0 | 2 |
| Uncertain significance | 0 | 34 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
36 |
 |
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
| 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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| 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 | FAM137B |
| SYNONYM | FAM71F2 |
| SYNONYM | GARI |
| MIM | 619904 OMIM |
| HGNC | HGNC:27998 HGNC |
| Ensembl | ENSG00000205085 Ensembl |
| AllianceGenome | HGNC:27998 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000477515.3 | hg38 | chr7 | 128,672,299 | 128,683,134 | 10,836 |
| ENST00000641605.1 | hg38 | chr7 | 128,672,292 | 128,687,872 | 15,581 |
| ENST00000684498.1 | hg38 | chr7 | 128,672,281 | 128,683,434 | 11,154 |
| ENST00000682356.1 | hg38 | chr7 | 128,672,292 | 128,687,877 | 15,586 |
| ENST00000684498.1 | hg19 | chr7 | 128,312,335 | 128,323,488 | 11,154 |
| ENST00000641605.1 | hg19 | chr7 | 128,312,346 | 128,327,926 | 15,581 |
| ENST00000682356.1 | hg19 | chr7 | 128,312,346 | 128,327,931 | 15,586 |
| ENST00000477515.3 | hg19 | chr7 | 128,312,353 | 128,323,188 | 10,836 |
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