WormBase Tree Display for Variation: WBVar00144045
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| WBVar00144045 | Evidence | Paper_evidence | WBPaper00003969 | |||
|---|---|---|---|---|---|---|
| Name | Public_name | e1497 | ||||
| Other_name | T01C8.7.1:c.1917_2045del | |||||
| CE39109:p.Cys640_Lys682del | ||||||
| HGVSg | CHROMOSOME_X:g.16803841_16803969del | |||||
| Sequence_details | SMap | S_parent | Sequence | T01C8 | ||
| Flanking_sequences | taaataaaaaactgcaatttcaattttaag | gtaagttaattcaagaaaaaacacacttta | ||||
| Mapping_target | T01C8 | |||||
| Type_of_mutation | Insertion | |||||
| Deletion | ||||||
| SeqStatus | Sequenced | |||||
| Variation_type | Allele | |||||
| Origin | Species | Caenorhabditis elegans | ||||
| Strain | WBStrain00004464 | |||||
| Laboratory | CB | |||||
| Status | Live | |||||
| Affects | Gene | WBGene00003168 | ||||
| Transcript | T01C8.7.1 | VEP_consequence | inframe_deletion,splice_region_variant | |||
| VEP_impact | MODERATE | |||||
| HGVSc | T01C8.7.1:c.1917_2045del | |||||
| HGVSp | CE39109:p.Cys640_Lys682del | |||||
| cDNA_position | 1918-2046 | |||||
| CDS_position | 1917-2045 | |||||
| Protein_position | 639-682 | |||||
| Exon_number | 14/17 | |||||
| Codon_change | agATGCCAACAACCATGCCGCCAGTCAATCTACTCCGTTACATACTCGCCGGCAAAGTGGCCGTCGTTATCTTTGCAAATTCAACTAGGATCGTGTAATGGTACAGCGGTAGAGTGTAATAAGCATTATAAa/aga | |||||
| Amino_acid_change | RCQQPCRQSIYSVTYSPAKWPSLSLQIQLGSCNGTAVECNKHYK/R | |||||
| Isolation | Mutagen | EMS | Paper_evidence | WBPaper00003969 | ||
| Genetics | Interpolated_map_position | X | 24.0625 | |||
| Mapping_data | In_2_point | 3645 | ||||
| In_multi_point | 1544 | |||||
| 1545 | ||||||
| In_pos_neg_data | 534 | |||||
| 535 | ||||||
| 537 | ||||||
| 538 | ||||||
| 539 | ||||||
| 1848 | ||||||
| 1919 | ||||||
| 2188 | ||||||
| 2332 | ||||||
| 3639 | ||||||
| Description | Phenotype | WBPhenotype:0000456 | Paper_evidence | WBPaper00000502 | ||
| Curator_confirmed | WBPerson712 | |||||
| Recessive | Paper_evidence | WBPaper00000502 | ||||
| Curator_confirmed | WBPerson712 | |||||
| Reference | WBPaper00000502 | |||||
| WBPaper00016119 | ||||||
| Remark | e1497 comprises a deletion and insertion within exon 13. The left and right flanks refer to the left and right of exon 13, respectively (exact nature of the lesion is not detailed in the paper). | Paper_evidence | WBPaper00003969 | |||
| Method | Deletion_and_insertion_allele |
