WormBase Tree Display for Variation: WBVar00094840
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| WBVar00094840 | Evidence | Paper_evidence | WBPaper00030973 | ||||||
|---|---|---|---|---|---|---|---|---|---|
| Name | Public_name | ot111 | |||||||
| Other_name | R03C1.3a.1:c.511C>T | ||||||||
| CE33290:p.Gln21Ter | |||||||||
| R03C1.3b.1:c.61C>T | |||||||||
| CE25964:p.Gln171Ter | |||||||||
| HGVSg | CHROMOSOME_II:g.14904870C>T | ||||||||
| Sequence_details | SMap | S_parent | Sequence | R03C1 | |||||
| Flanking_sequences | tccccgaactccctgaacatgcagaagaag | aaagcagacccacattcaccggccatcaga | |||||||
| Mapping_target | R03C1 | ||||||||
| Type_of_mutation | Substitution | c | t | Paper_evidence | WBPaper00030973 | ||||
| SeqStatus | Sequenced | ||||||||
| Variation_type | Allele | ||||||||
| Origin | Species | Caenorhabditis elegans | |||||||
| Laboratory | OH | ||||||||
| Status | Live | ||||||||
| Affects | Gene | WBGene00000584 | |||||||
| Transcript | R03C1.3b.1 | VEP_consequence | stop_gained | ||||||
| VEP_impact | HIGH | ||||||||
| HGVSc | R03C1.3b.1:c.61C>T | ||||||||
| HGVSp | CE33290:p.Gln21Ter | ||||||||
| cDNA_position | 200 | ||||||||
| CDS_position | 61 | ||||||||
| Protein_position | 21 | ||||||||
| Exon_number | 3/5 | ||||||||
| Codon_change | Caa/Taa | ||||||||
| Amino_acid_change | Q/* | ||||||||
| R03C1.3a.1 | VEP_consequence | stop_gained | |||||||
| VEP_impact | HIGH | ||||||||
| HGVSc | R03C1.3a.1:c.511C>T | ||||||||
| HGVSp | CE25964:p.Gln171Ter | ||||||||
| cDNA_position | 537 | ||||||||
| CDS_position | 511 | ||||||||
| Protein_position | 171 | ||||||||
| Exon_number | 4/6 | ||||||||
| Codon_change | Caa/Taa | ||||||||
| Amino_acid_change | Q/* | ||||||||
| Genetics | Interpolated_map_position | II | 23.6957 | ||||||
| Description | Phenotype | WBPhenotype:0000688 | Paper_evidence | WBPaper00030973 | |||||
| Curator_confirmed | WBPerson2021 | ||||||||
| Recessive | Paper_evidence | WBPaper00030973 | |||||||
| Curator_confirmed | WBPerson2021 | ||||||||
| EQ_annotations | Life_stage | WBls:0000041 | PATO:0000460 | Paper_evidence | WBPaper00030973 | ||||
| Curator_confirmed | WBPerson2021 | ||||||||
| Phenotype_assay | Temperature | 25C | Paper_evidence | WBPaper00030973 | |||||
| Curator_confirmed | WBPerson2021 | ||||||||
| Genotype | otIs114 [lim-6p::GFP] | Paper_evidence | WBPaper00030973 | ||||||
| Curator_confirmed | WBPerson2021 | ||||||||
| WBPhenotype:0001660 | Paper_evidence | WBPaper00030973 | |||||||
| Curator_confirmed | WBPerson2021 | ||||||||
| Remark | ASE asymmetry is disrupted. 2 ASEL | Paper_evidence | WBPaper00030973 | ||||||
| Curator_confirmed | WBPerson2021 | ||||||||
| Penetrance | Incomplete | 50 percent | Paper_evidence | WBPaper00030973 | |||||
| Curator_confirmed | WBPerson2021 | ||||||||
| Recessive | Paper_evidence | WBPaper00030973 | |||||||
| Curator_confirmed | WBPerson2021 | ||||||||
| EQ_annotations | Anatomy_term | WBbt:0005663 | PATO:0000460 | Paper_evidence | WBPaper00030973 | ||||
| Curator_confirmed | WBPerson2021 | ||||||||
| Phenotype_assay | Temperature | 25C | Paper_evidence | WBPaper00030973 | |||||
| Curator_confirmed | WBPerson2021 | ||||||||
| Genotype | otIs114 [lim-6p::GFP] | Paper_evidence | WBPaper00030973 | ||||||
| Curator_confirmed | WBPerson2021 | ||||||||
| Reference | WBPaper00030973 | ||||||||
| Method | Substitution_allele |
