RNASE4 ribonuclease A family member 4
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 12 |
| Likely pathogenic | 0 | 2 |
| Benign | 4 | 24 |
| Likely benign | 0 | 42 |
| Conflicting classifications of pathogenicity | 0 | 8 |
| Uncertain significance | 0 | 96 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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30 |
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124 |
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12 |
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
| 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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| 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 | RAB1 |
| SYNONYM | RNS4 |
| MIM | 601030 OMIM |
| HGNC | HGNC:10047 HGNC |
| Ensembl | ENSG00000258818 Ensembl |
| AllianceGenome | HGNC:10047 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000397995.2 | hg38 | chr14 | 20,684,583 | 20,700,093 | 15,511 |
| ENST00000555597.1 | hg38 | chr14 | 20,688,782 | 20,700,602 | 11,821 |
| ENST00000555835.3 | hg38 | chr14 | 20,684,560 | 20,701,216 | 16,657 |
| ENST00000555835.3 | hg19 | chr14 | 21,152,719 | 21,169,375 | 16,657 |
| ENST00000397995.2 | hg19 | chr14 | 21,152,742 | 21,168,252 | 15,511 |
| ENST00000555597.1 | hg19 | chr14 | 21,156,941 | 21,168,761 | 11,821 |
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