SYNGR2 synaptogyrin 2
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Uncertain significance | 0 | 26 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
26 |
 |
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
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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 | |||||||||||
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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 |
|---|---|
| MIM | 603926 OMIM |
| HGNC | HGNC:11499 HGNC |
| Ensembl | ENSG00000108639 Ensembl |
| AllianceGenome | HGNC:11499 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000225777.8 | hg38 | chr17 | 78,168,581 | 78,172,720 | 4,140 |
| ENST00000588282.5 | hg38 | chr17 | 78,168,611 | 78,172,719 | 4,109 |
| ENST00000589711.1 | hg38 | chr17 | 78,168,604 | 78,173,527 | 4,924 |
| ENST00000585591.5 | hg38 | chr17 | 78,168,594 | 78,173,335 | 4,742 |
| ENST00000590201.1 | hg38 | chr17 | 78,169,158 | 78,173,527 | 4,370 |
| ENST00000225777.8 | hg19 | chr17 | 76,164,662 | 76,168,801 | 4,140 |
| ENST00000585591.5 | hg19 | chr17 | 76,164,675 | 76,169,416 | 4,742 |
| ENST00000589711.1 | hg19 | chr17 | 76,164,685 | 76,169,608 | 4,924 |
| ENST00000588282.5 | hg19 | chr17 | 76,164,692 | 76,168,800 | 4,109 |
| ENST00000590201.1 | hg19 | chr17 | 76,165,239 | 76,169,608 | 4,370 |
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