No summary description provided by OMIM
Phenotype | Phenotype MIM number | Inheritance |
---|---|---|
{{item.phenotype}} | {{item.phenotypeMimNumber}} | {{item.phenotypeInheritance}} |
No OMIM gene-phenotype relationships found
No OMIM allelic variants found
Phenotype | Mutation | dbSNP |
---|
{{item.name}} | {{item.mutations}} | {{item.dbSnps}} |
No matches found
No matches found
Allele count | {{exacRes.ExACalleleCount}} |
---|---|
Allele number | {{exacRes.ExACalleleNum}} |
Homozygous count | {{exacRes.ExAChomCount}} |
Allele frequency | {{exacRes.ExACalleleFreq}} |
Gene | |
No matches found
Variant | rsID | HPO Profiles | # het | # hom |
---|---|---|---|---|
{{item.chr}}:{{item.pos}} {{item.ref}}>{{item.alt}} | {{item.varId == '.' ? 'NA' : item.varId}} | {{item.hpoCount}} | {{item.hetCount}} | {{item.homCount}} |
No matches found
Variation | Location | Condition(s) | Clinical Significance | Review Status |
---|
{{row.title}}{{ row.title }} | {{row.chr ? 'Chr' + row.chr + ':' : ''}}{{row.start}}{{row.start}}-{{row.stop}} | {{row.condition}} | {{row.significance.description}} | {{row.significance.reviewStatus}} |
{{row.title}}{{ row.title }} | {{row.chr ? 'Chr' + row.chr + ':' : ''}}{{row.start}}{{row.start}}-{{row.stop}} | {{row.condition}} | {{row.significance.description}} | {{row.significance.reviewStatus}} |
No ClinVar variants found for CCND3
Position | Size | Type | Subtype | Frequency | Gain | Loss | Sample Size | References | Genes |
---|---|---|---|---|---|---|---|---|---|
{{item.chr}} {{item.start}} {{item.end}} | {{item.end - item.start}} | {{item.varType}} | {{item.varSubType}} | {{(item.freq || (item.observedgains + item.observedlosses) / item.sampleSize).toFixed(8)}} | {{item.observedgains}} | {{item.observedlosses}} | {{item.sampleSize}} | {{item.pubmedId}} | {{aGene}} |
No matches found
No matches found
Homolog | DIOPT Score | Expression | Molecular function | Cellular component | Biological process | |
---|---|---|---|---|---|---|
Human | {{orthologSymbol}} | NA | No data available
| No term based on experiment
Show {{GO.length - 5}} more
| ||
Rat | {{row.dioptScore}}/11 | No data available
Show all ({{row.expression.length}})
| No term based on experiment
Show {{GO.length - 5}} more
| |||
Mouse | {{row.dioptScore}}/13 | No data available No tissue expressed in wild-type
Show {{row.wtExp.length - 5}} more
| No term based on experiment
Show {{GO.length - 5}} more
| |||
Zebrafish | {{row.dioptScore}}/12 | No available data No structure expressed in wild-type
Show {{row.expression.length - 5}} more
| No term based on experiment
Show {{GO.length - 5}} more
| |||
Drosophila | {{row.dioptScore}}/12 |
| No term based on experiment
Show {{GO.length - 5}} more
| |||
C Elegans | {{row.dioptScore}}/12 | No term based on experiment
Show {{GO.length - 5}} more
| ||||
Budding Yeast | {{row.dioptScore}}/11 | No term based on experiment
Show {{GO.length - 5}} more
| ||||
Fission Yeast | {{row.dioptScore}}/8 | No term based on experiment
Show {{GO.length - 5}} more
|
Index | Domain name | Domain start | Domain stop | Domain description | Protein ID | External ID |
---|---|---|---|---|---|---|
{{row.index}} | {{row.domainName}} | {{row.domainStart}} | {{row.domainStop}} | {{row.domainDescription}} | {{row.proteinId}} | {{row.externalId}} |
No alignment data available