SYNGR1 synaptogyrin 1
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 2 |
| Likely benign | 0 | 2 |
| Uncertain significance | 0 | 46 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
48 |
 |
2 |
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
|
| Category | : |
|
| Search word | : | |
| Filtering | : |
| 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
|
| Category | : |
|
| Search word | : | |
| 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
|
| Category | : |
|
| 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 |
|---|---|
| MIM | 603925 OMIM |
| HGNC | HGNC:11498 HGNC |
| Ensembl | ENSG00000100321 Ensembl |
| AllianceGenome | HGNC:11498 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000328933.10 | hg38 | chr22 | 39,349,991 | 39,385,575 | 35,585 |
| ENST00000216155.11 | hg38 | chr22 | 39,349,949 | 39,376,033 | 26,085 |
| ENST00000318801.8 | hg38 | chr22 | 39,349,925 | 39,378,389 | 28,465 |
| ENST00000406293.7 | hg38 | chr22 | 39,349,991 | 39,377,075 | 27,085 |
| ENST00000381535.4 | hg38 | chr22 | 39,364,170 | 39,378,381 | 14,212 |
| ENST00000318801.8 | hg19 | chr22 | 39,745,930 | 39,774,394 | 28,465 |
| ENST00000216155.11 | hg19 | chr22 | 39,745,954 | 39,772,038 | 26,085 |
| ENST00000406293.7 | hg19 | chr22 | 39,745,996 | 39,773,080 | 27,085 |
| ENST00000328933.10 | hg19 | chr22 | 39,745,996 | 39,781,580 | 35,585 |
| ENST00000381535.4 | hg19 | chr22 | 39,760,175 | 39,774,386 | 14,212 |
Genome browser