RIC3 RIC3 acetylcholine receptor chaperone
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 2 |
| Likely benign | 0 | 2 |
| Uncertain significance | 0 | 42 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
44 |
 |
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
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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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MGeND data only
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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 | AYST720 |
| SYNONYM | PRO1385 |
| SYNONYM | RIC-3 |
| MIM | 610509 OMIM |
| HGNC | HGNC:30338 HGNC |
| Ensembl | ENSG00000166405 Ensembl |
| AllianceGenome | HGNC:30338 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000309737.11 | hg38 | chr11 | 8,106,056 | 8,169,025 | 62,970 |
| ENST00000425599.6 | hg38 | chr11 | 8,110,698 | 8,168,989 | 58,292 |
| ENST00000335425.7 | hg38 | chr11 | 8,106,093 | 8,169,043 | 62,951 |
| ENST00000419822.2 | hg38 | chr11 | 8,139,054 | 8,169,025 | 29,972 |
| ENST00000343202.8 | hg38 | chr11 | 8,108,942 | 8,169,055 | 60,114 |
| ENST00000309737.11 | hg19 | chr11 | 8,127,603 | 8,190,572 | 62,970 |
| ENST00000335425.7 | hg19 | chr11 | 8,127,640 | 8,190,590 | 62,951 |
| ENST00000343202.8 | hg19 | chr11 | 8,130,489 | 8,190,602 | 60,114 |
| ENST00000425599.6 | hg19 | chr11 | 8,132,245 | 8,190,536 | 58,292 |
| ENST00000419822.2 | hg19 | chr11 | 8,160,601 | 8,190,572 | 29,972 |
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