WormBase Tree Display for Variation: WBVar00143981
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| WBVar00143981 | Evidence | Paper_evidence | WBPaper00005086 | ||||
|---|---|---|---|---|---|---|---|
| Name | Public_name | e1406 | |||||
| Other_name | CE30451:p.Glu119SerfsTer55 | ||||||
| T13C5.1c.1:c.291del | |||||||
| CE27206:p.Glu134SerfsTer55 | |||||||
| T13C5.1a.1:c.399del | |||||||
| CE53632:p.Glu98SerfsTer55 | |||||||
| T13C5.1b.1:c.354del | |||||||
| HGVSg | CHROMOSOME_X:g.6198628del | ||||||
| Sequence_details | SMap | S_parent | Sequence | T13C5 | |||
| Flanking_sequences | caatattctcactccggaacaaactttcct | gagtatcgtgaaatctatggtccgattttc | |||||
| Mapping_target | T13C5 | ||||||
| Type_of_mutation | Deletion | ||||||
| SeqStatus | Sequenced | ||||||
| Variation_type | Allele | ||||||
| Origin | Species | Caenorhabditis elegans | |||||
| Strain | WBStrain00004401 | ||||||
| WBStrain00006316 | |||||||
| WBStrain00006338 | |||||||
| WBStrain00007960 | |||||||
| Laboratory | CB | ||||||
| Status | Live | ||||||
| Affects | Gene | WBGene00000905 | |||||
| Transcript | T13C5.1c.1 | VEP_consequence | frameshift_variant | ||||
| VEP_impact | HIGH | ||||||
| HGVSc | T13C5.1c.1:c.291del | ||||||
| HGVSp | CE53632:p.Glu98SerfsTer55 | ||||||
| cDNA_position | 291 | ||||||
| CDS_position | 291 | ||||||
| Protein_position | 97 | ||||||
| Exon_number | 1/10 | ||||||
| Codon_change | ctC/ct | ||||||
| Amino_acid_change | L/X | ||||||
| T13C5.1b.1 | VEP_consequence | frameshift_variant | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | T13C5.1b.1:c.354del | ||||||
| HGVSp | CE30451:p.Glu119SerfsTer55 | ||||||
| cDNA_position | 354 | ||||||
| CDS_position | 354 | ||||||
| Protein_position | 118 | ||||||
| Exon_number | 2/10 | ||||||
| Codon_change | ctC/ct | ||||||
| Amino_acid_change | L/X | ||||||
| T13C5.1a.1 | VEP_consequence | frameshift_variant | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | T13C5.1a.1:c.399del | ||||||
| HGVSp | CE27206:p.Glu134SerfsTer55 | ||||||
| cDNA_position | 460 | ||||||
| CDS_position | 399 | ||||||
| Protein_position | 133 | ||||||
| Exon_number | 4/13 | ||||||
| Codon_change | ctC/ct | ||||||
| Amino_acid_change | L/X | ||||||
| Interactor | WBInteraction000517423 | ||||||
| WBInteraction000532965 | |||||||
| WBInteraction000532966 | |||||||
| Genetics | Interpolated_map_position | X | -3.47285 | ||||
| Mapping_data | In_2_point | 426 | |||||
| 427 | |||||||
| 428 | |||||||
| 3148 | |||||||
| 3149 | |||||||
| In_pos_neg_data | 1818 | ||||||
| Description | Phenotype (14) | ||||||
| Phenotype_not_observed | WBPhenotype:0000294 | Paper_evidence | WBPaper00001035 | ||||
| Curator_confirmed | WBPerson712 | ||||||
| WBPhenotype:0002535 | Paper_evidence | WBPaper00000932 | |||||
| Curator_confirmed | WBPerson712 | ||||||
| Remark | FITC uptake is normal. | Paper_evidence | WBPaper00000932 | ||||
| Curator_confirmed | WBPerson712 | ||||||
| Reference | WBPaper00024451 | ||||||
| WBPaper00040979 | |||||||
| WBPaper00001035 | |||||||
| WBPaper00000932 | |||||||
| WBPaper00005086 | |||||||
| WBPaper00016537 | |||||||
| WBPaper00010227 | |||||||
| WBPaper00010225 | |||||||
| WBPaper00016300 | |||||||
| Method | Deletion_allele |
