WormBase Tree Display for Variation: WBVar00144010
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| WBVar00144010 | Evidence | Paper_evidence | WBPaper00002436 | ||||||
|---|---|---|---|---|---|---|---|---|---|
| Name | Public_name | e1449 | |||||||
| Other_name | Y54G11A.10b.1:c.40C>T | ||||||||
| Y54G11A.10a.1:c.40C>T | |||||||||
| CE43616:p.Gln14Ter | |||||||||
| CE43589:p.Gln14Ter | |||||||||
| HGVSg | CHROMOSOME_II:g.14348753G>A | ||||||||
| Sequence_details | SMap | S_parent | Sequence | Y54G11A | |||||
| Flanking_sequences | ccggatggtccgaatttggagcgggacgtt | agcgtattctagagctcatggagcacgttc | |||||||
| Mapping_target | Y54G11A | ||||||||
| Type_of_mutation | Substitution | c | t | Paper_evidence | WBPaper00002436 | ||||
| SeqStatus | Sequenced | ||||||||
| Variation_type | Allele | ||||||||
| Origin | Species | Caenorhabditis elegans | |||||||
| Strain | WBStrain00004334 | ||||||||
| Laboratory | CB | ||||||||
| Status | Live | ||||||||
| Affects | Gene | WBGene00002996 | |||||||
| Transcript | Y54G11A.10b.1 | VEP_consequence | stop_gained | ||||||
| VEP_impact | HIGH | ||||||||
| HGVSc | Y54G11A.10b.1:c.40C>T | ||||||||
| HGVSp | CE43616:p.Gln14Ter | ||||||||
| cDNA_position | 364 | ||||||||
| CDS_position | 40 | ||||||||
| Protein_position | 14 | ||||||||
| Exon_number | 3/6 | ||||||||
| Codon_change | Cag/Tag | ||||||||
| Amino_acid_change | Q/* | ||||||||
| Y54G11A.10a.1 | VEP_consequence | stop_gained | |||||||
| VEP_impact | HIGH | ||||||||
| HGVSc | Y54G11A.10a.1:c.40C>T | ||||||||
| HGVSp | CE43589:p.Gln14Ter | ||||||||
| cDNA_position | 40 | ||||||||
| CDS_position | 40 | ||||||||
| Protein_position | 14 | ||||||||
| Exon_number | 1/5 | ||||||||
| Codon_change | Cag/Tag | ||||||||
| Amino_acid_change | Q/* | ||||||||
| Genetics | Interpolated_map_position | II | 22.9071 | ||||||
| Mapping_data | In_pos_neg_data | 7384 | |||||||
| Description | Phenotype | WBPhenotype:0000698 | Paper_evidence | WBPaper00000762 | |||||
| Curator_confirmed | WBPerson2021 | ||||||||
| Penetrance | High | Paper_evidence | WBPaper00000762 | ||||||
| Curator_confirmed | WBPerson2021 | ||||||||
| Range | 95 | 95 | Paper_evidence | WBPaper00000762 | |||||
| Curator_confirmed | WBPerson2021 | ||||||||
| Recessive | Paper_evidence | WBPaper00000762 | |||||||
| Curator_confirmed | WBPerson2021 | ||||||||
| Variation_effect | Null | Paper_evidence | WBPaper00000762 | ||||||
| Curator_confirmed | WBPerson2021 | ||||||||
| EQ_annotations | Life_stage | WBls:0000057 | PATO:0000460 | Paper_evidence | WBPaper00000762 | ||||
| Curator_confirmed | WBPerson2021 | ||||||||
| Phenotype_assay | Temperature | 20 | Paper_evidence | WBPaper00000762 | |||||
| Curator_confirmed | WBPerson2021 | ||||||||
| Reference | WBPaper00015349 | ||||||||
| WBPaper00000762 | |||||||||
| WBPaper00023223 | |||||||||
| Method | Substitution_allele |
