WormBase Tree Display for Variation: WBVar00142926
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| WBVar00142926 | Evidence | Paper_evidence | WBPaper00031667 | |||||
|---|---|---|---|---|---|---|---|---|
| Name | Public_name | e36 | ||||||
| Other_name | CE29503:p.Tyr69Ter | |||||||
| F56A11.3.1:c.207T>A | ||||||||
| HGVSg | CHROMOSOME_IV:g.565590T>A | |||||||
| Sequence_details | SMap | S_parent | Sequence | F56A11 | ||||
| Flanking_sequences | acgaaacgatggcgagtacctgattgtcta | gaagtaaccgagttcgcgatggatgactgt | ||||||
| Mapping_target | F56A11 | |||||||
| Type_of_mutation | Substitution | t | a | Paper_evidence | WBPaper00005631 | |||
| SeqStatus | Sequenced | |||||||
| Variation_type | Allele | |||||||
| Origin | Species | Caenorhabditis elegans | ||||||
| Laboratory | CB | |||||||
| Status | Live | |||||||
| Affects | Gene | WBGene00001165 | ||||||
| Transcript | F56A11.3.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | |||||||
| HGVSc | F56A11.3.1:c.207T>A | |||||||
| HGVSp | CE29503:p.Tyr69Ter | |||||||
| cDNA_position | 211 | |||||||
| CDS_position | 207 | |||||||
| Protein_position | 69 | |||||||
| Exon_number | 3/6 | |||||||
| Codon_change | taT/taA | |||||||
| Amino_acid_change | Y/* | |||||||
| Genetics | Interpolated_map_position | IV | -25.6292 | |||||
| Description | Phenotype | WBPhenotype:0000059 | Paper_evidence | WBPaper00005631 | ||||
| Curator_confirmed | WBPerson557 | |||||||
| Penetrance | Low | 10.5 percent | Paper_evidence | WBPaper00005631 | ||||
| Curator_confirmed | WBPerson557 | |||||||
| Recessive | Paper_evidence | WBPaper00005631 | ||||||
| Curator_confirmed | WBPerson557 | |||||||
| Variation_effect | Predicted_null_via_sequence | Paper_evidence | WBPaper00005631 | |||||
| Curator_confirmed | WBPerson557 | |||||||
| WBPhenotype:0000073 | Paper_evidence | WBPaper00005631 | ||||||
| Curator_confirmed | WBPerson557 | |||||||
| Penetrance | Low | Paper_evidence | WBPaper00005631 | |||||
| Curator_confirmed | WBPerson557 | |||||||
| Recessive | Paper_evidence | WBPaper00005631 | ||||||
| Curator_confirmed | WBPerson557 | |||||||
| Variation_effect | Probable_null_via_phenotype | Paper_evidence | WBPaper00005631 | |||||
| Curator_confirmed | WBPerson557 | |||||||
| WBPhenotype:0000409 | Paper_evidence | WBPaper00005631 | ||||||
| Curator_confirmed | WBPerson557 | |||||||
| Penetrance | Low | 17.7 percent | Paper_evidence | WBPaper00005631 | ||||
| Curator_confirmed | WBPerson557 | |||||||
| Recessive | Paper_evidence | WBPaper00005631 | ||||||
| Curator_confirmed | WBPerson557 | |||||||
| Variation_effect | Predicted_null_via_sequence | Paper_evidence | WBPaper00005631 | |||||
| Curator_confirmed | WBPerson557 | |||||||
| WBPhenotype:0000867 | Paper_evidence | WBPaper00005631 | ||||||
| Curator_confirmed | WBPerson557 | |||||||
| Penetrance | Low | 11.1 percent | Paper_evidence | WBPaper00005631 | ||||
| Curator_confirmed | WBPerson557 | |||||||
| Recessive | Paper_evidence | WBPaper00005631 | ||||||
| Curator_confirmed | WBPerson557 | |||||||
| Variation_effect | Predicted_null_via_sequence | Paper_evidence | WBPaper00005631 | |||||
| Curator_confirmed | WBPerson557 | |||||||
| Phenotype_not_observed | WBPhenotype:0000050 | Paper_evidence | WBPaper00031667 | |||||
| Curator_confirmed | WBPerson712 | |||||||
| Penetrance | High | Paper_evidence | WBPaper00031667 | |||||
| Curator_confirmed | WBPerson712 | |||||||
| Phenotype_assay | Temperature | 15 | Paper_evidence | WBPaper00031667 | ||||
| Curator_confirmed | WBPerson712 | |||||||
| Reference | WBPaper00005631 | |||||||
| WBPaper00031667 | ||||||||
| Method | Substitution_allele |
