RIT1 Ras like without CAAX 1
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 23 | 54 |
| Likely pathogenic | 1 | 28 |
| Benign | 0 | 32 |
| Likely benign | 0 | 206 |
| Conflicting classifications of pathogenicity | 0 | 26 |
| not provided | 8 | 0 |
| Uncertain significance | 0 | 274 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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182 |
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384 |
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6 |
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
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 | |||||||||||
Search Word
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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 | NS8 |
| SYNONYM | RIBB |
| SYNONYM | RIT |
| SYNONYM | ROC1 |
| MIM | 609591 OMIM |
| HGNC | HGNC:10023 HGNC |
| Ensembl | ENSG00000143622 Ensembl |
| AllianceGenome | HGNC:10023 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000651853.1 | hg38 | chr1 | 155,898,837 | 155,911,404 | 12,568 |
| ENST00000539040.6 | hg38 | chr1 | 155,898,912 | 155,911,351 | 12,440 |
| ENST00000368322.7 | hg38 | chr1 | 155,900,274 | 155,910,915 | 10,642 |
| ENST00000368323.8 | hg38 | chr1 | 155,897,808 | 155,911,349 | 13,542 |
| ENST00000368323.8 | hg19 | chr1 | 155,867,599 | 155,881,140 | 13,542 |
| ENST00000651853.1 | hg19 | chr1 | 155,868,628 | 155,881,195 | 12,568 |
| ENST00000539040.6 | hg19 | chr1 | 155,868,703 | 155,881,142 | 12,440 |
| ENST00000368322.7 | hg19 | chr1 | 155,870,065 | 155,880,706 | 10,642 |
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