WormBase Tree Display for Variation: WBVar00143781
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| WBVar00143781 | Evidence | Paper_evidence | WBPaper00000779 | ||||
|---|---|---|---|---|---|---|---|
| Name | Public_name | e1152 | |||||
| Other_name | CE09349:p.Gly852_Lys853delinsArgMet | ||||||
| F11C3.3.1:c.2554_2558delinsAGAAT | |||||||
| HGVSg | CHROMOSOME_I:g.14859670_14859674delinsATTCT | ||||||
| Sequence_details | SMap | S_parent | Sequence | F11C3 | |||
| Flanking_sequences | tacggaaaggtcaagccaatgctcaaggcc | ggaagccgaggagctcgagaagatcaacga | |||||
| Mapping_target | F11C3 | ||||||
| Type_of_mutation | Substitution | ggaaa | agaat | ||||
| SeqStatus | Sequenced | ||||||
| Variation_type | Allele | ||||||
| Origin | Species | Caenorhabditis elegans | |||||
| Strain | WBStrain00004255 | ||||||
| WBStrain00033515 | |||||||
| Laboratory | CB | ||||||
| Status | Live | ||||||
| Affects | Gene | WBGene00006789 | |||||
| Transcript | F11C3.3.1 | VEP_consequence | missense_variant | ||||
| VEP_impact | MODERATE | ||||||
| HGVSc | F11C3.3.1:c.2554_2558delinsAGAAT | ||||||
| HGVSp | CE09349:p.Gly852_Lys853delinsArgMet | ||||||
| cDNA_position | 2586-2590 | ||||||
| CDS_position | 2554-2558 | ||||||
| Protein_position | 852-853 | ||||||
| Exon_number | 7/11 | ||||||
| Codon_change | GGAAAg/AGAATg | ||||||
| Amino_acid_change | GK/RM | ||||||
| Isolation | Mutagen | EMS | Paper_evidence | WBPaper00000779 | |||
| Genetics | Interpolated_map_position | I | 27.9607 | ||||
| Mapping_data | In_2_point | 207 | |||||
| 208 | |||||||
| In_multi_point | 246 | ||||||
| In_pos_neg_data (13) | |||||||
| Description | Phenotype | WBPhenotype:0000229 | Person_evidence | WBPerson261 | |||
| Curator_confirmed | WBPerson712 | ||||||
| Remark | small | Person_evidence | WBPerson261 | ||||
| Curator_confirmed | WBPerson712 | ||||||
| Semi_dominant | Person_evidence | WBPerson261 | |||||
| Curator_confirmed | WBPerson712 | ||||||
| Variation_effect | Hypermorph_gain_of_function | Person_evidence | WBPerson261 | ||||
| Curator_confirmed | WBPerson712 | ||||||
| WBPhenotype:0000644 | Person_evidence | WBPerson261 | |||||
| Curator_confirmed | WBPerson712 | ||||||
| Remark | small | Person_evidence | WBPerson261 | ||||
| Curator_confirmed | WBPerson712 | ||||||
| Semi_dominant | Person_evidence | WBPerson261 | |||||
| Curator_confirmed | WBPerson712 | ||||||
| Variation_effect | Hypermorph_gain_of_function | Person_evidence | WBPerson261 | ||||
| Curator_confirmed | WBPerson712 | ||||||
| Ease_of_scoring | ES3_Easy_to_score | Person_evidence | WBPerson261 | ||||
| Curator_confirmed | WBPerson712 | ||||||
| Reference | WBPaper00027255 | ||||||
| WBPaper00016578 | |||||||
| WBPaper00016042 | |||||||
| Remark | e1152 comrpises a total of two base substitutions in two separate codons. | Paper_evidence | WBPaper00000779 | ||||
| Method | Substitution_allele |
