WormBase Tree Display for Variation: WBVar02146586
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| WBVar02146586 | Evidence | Paper_evidence | WBPaper00049807 | ||
|---|---|---|---|---|---|
| Name | Public_name | rt248 | |||
| Other_name | C41G7.1a.1:c.25_32del | ||||
| C41G7.1b.1:c.55_62del | |||||
| CE08665:p.Asp9AlafsTer6 | |||||
| CE27843:p.Asp19AlafsTer6 | |||||
| C41G7.1a.2:c.25_32del | |||||
| HGVSg | CHROMOSOME_I:g.9511983_9511990del | ||||
| Sequence_details | SMap | S_parent | Sequence | C41G7 | |
| Flanking_sequences | ggcgacatggaggtagacgatgtttgggat | gctaatcaaaatgtatgatgaatcgcttca | |||
| Mapping_target | C41G7 | ||||
| Type_of_mutation | Deletion | ||||
| SeqStatus | Sequenced | ||||
| Variation_type | Engineered_allele | ||||
| Allele | |||||
| Origin | Species | Caenorhabditis elegans | |||
| Strain | WBStrain00008302 | ||||
| Laboratory | HA | ||||
| Production_method | CRISPR_Cas9 | ||||
| Status | Live | ||||
| Affects | Gene | WBGene00004887 | |||
| Transcript | C41G7.1a.2 | VEP_consequence | frameshift_variant | ||
| VEP_impact | HIGH | ||||
| HGVSc | C41G7.1a.2:c.25_32del | ||||
| HGVSp | CE08665:p.Asp9AlafsTer6 | ||||
| cDNA_position | 33-40 | ||||
| CDS_position | 25-32 | ||||
| Protein_position | 9-11 | ||||
| Exon_number | 2/6 | ||||
| Codon_change | GATACGGAg/g | ||||
| Amino_acid_change | DTE/X | ||||
| C41G7.1b.1 | VEP_consequence | frameshift_variant | |||
| VEP_impact | HIGH | ||||
| HGVSc | C41G7.1b.1:c.55_62del | ||||
| HGVSp | CE27843:p.Asp19AlafsTer6 | ||||
| cDNA_position | 55-62 | ||||
| CDS_position | 55-62 | ||||
| Protein_position | 19-21 | ||||
| Exon_number | 2/5 | ||||
| Codon_change | GATACGGAg/g | ||||
| Amino_acid_change | DTE/X | ||||
| C41G7.1a.1 | VEP_consequence | frameshift_variant | |||
| VEP_impact | HIGH | ||||
| HGVSc | C41G7.1a.1:c.25_32del | ||||
| HGVSp | CE08665:p.Asp9AlafsTer6 | ||||
| cDNA_position | 193-200 | ||||
| CDS_position | 25-32 | ||||
| Protein_position | 9-11 | ||||
| Exon_number | 3/7 | ||||
| Codon_change | GATACGGAg/g | ||||
| Amino_acid_change | DTE/X | ||||
| Description | Phenotype | WBPhenotype:0000017 | Paper_evidence | WBPaper00049807 | |
| Curator_confirmed | WBPerson10047 | ||||
| WBPhenotype:0000058 | Paper_evidence | WBPaper00049807 | |||
| Curator_confirmed | WBPerson10047 | ||||
| WBPhenotype:0000420 | Paper_evidence | WBPaper00049807 | |||
| Curator_confirmed | WBPerson10047 | ||||
| Reference | WBPaper00037843 | ||||
| WBPaper00049807 | |||||
| Method | Engineered_allele |
