WormBase Tree Display for Variation: WBVar00144418
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| WBVar00144418 | Evidence | Paper_evidence | WBPaper00002448 | ||||
|---|---|---|---|---|---|---|---|
| Name | Public_name | e1948 | |||||
| Other_name | CE16043:p.Gln297Ter | ||||||
| F45D3.5.1:c.889C>T | |||||||
| HGVSg | CHROMOSOME_V:g.12561779C>T | ||||||
| Sequence_details | SMap | S_parent | Sequence | F45D3 | |||
| Flanking_sequences | ggagatacatccgctcaattgggactcgga | agatttatttagctggtggacgagggctca | |||||
| Mapping_target | F45D3 | ||||||
| Type_of_mutation | Substitution | c | t | Paper_evidence | WBPaper00002448 | ||
| SeqStatus | Sequenced | ||||||
| Variation_type | Allele | ||||||
| Origin | Species | Caenorhabditis elegans | |||||
| Strain | WBStrain00008019 | ||||||
| Laboratory | CB | ||||||
| Status | Live | ||||||
| Affects | Gene | WBGene00004759 | |||||
| Transcript | F45D3.5.1 | VEP_consequence | stop_gained | ||||
| VEP_impact | HIGH | ||||||
| HGVSc | F45D3.5.1:c.889C>T | ||||||
| HGVSp | CE16043:p.Gln297Ter | ||||||
| cDNA_position | 890 | ||||||
| CDS_position | 889 | ||||||
| Protein_position | 297 | ||||||
| Exon_number | 5/8 | ||||||
| Codon_change | Cag/Tag | ||||||
| Amino_acid_change | Q/* | ||||||
| Interactor | WBInteraction000501561 | ||||||
| WBInteraction000518888 | |||||||
| WBInteraction000518891 | |||||||
| WBInteraction000518892 | |||||||
| WBInteraction000518893 | |||||||
| WBInteraction000518894 | |||||||
| WBInteraction000558927 | |||||||
| WBInteraction000558928 | |||||||
| Genetics | Gene_class | sup | |||||
| Interpolated_map_position | V | 4.49828 | |||||
| Mapping_data | In_multi_point | 1531 | |||||
| 1532 | |||||||
| 2797 | |||||||
| 2798 | |||||||
| Description | Phenotype_not_observed | WBPhenotype:0000006 | Paper_evidence | WBPaper00002448 | |||
| Curator_confirmed | WBPerson217 | ||||||
| Variation_effect | Probable_null_via_phenotype | Paper_evidence | WBPaper00002448 | ||||
| Curator_confirmed | WBPerson217 | ||||||
| WBPhenotype:0000050 | Paper_evidence | WBPaper00002448 | |||||
| Curator_confirmed | WBPerson217 | ||||||
| Variation_effect | Probable_null_via_phenotype | Paper_evidence | WBPaper00002448 | ||||
| Curator_confirmed | WBPerson217 | ||||||
| WBPhenotype:0000054 | Paper_evidence | WBPaper00002448 | |||||
| Curator_confirmed | WBPerson217 | ||||||
| Variation_effect | Probable_null_via_phenotype | Paper_evidence | WBPaper00002448 | ||||
| Curator_confirmed | WBPerson217 | ||||||
| WBPhenotype:0000688 | Paper_evidence | WBPaper00002448 | |||||
| Curator_confirmed | WBPerson217 | ||||||
| Variation_effect | Probable_null_via_phenotype | Paper_evidence | WBPaper00002448 | ||||
| Curator_confirmed | WBPerson217 | ||||||
| WBPhenotype:0000886 | Person_evidence | WBPerson261 | |||||
| Curator_confirmed | WBPerson712 | ||||||
| Remark | no phenotype alone | Person_evidence | WBPerson261 | ||||
| Curator_confirmed | WBPerson712 | ||||||
| Reference | WBPaper00002448 | ||||||
| WBPaper00013889 | |||||||
| WBPaper00020988 | |||||||
| WBPaper00022249 | |||||||
| Method | Substitution_allele |
