WormBase Tree Display for Variation: WBVar00089472
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| WBVar00089472 | Name | Public_name | n383 | ||||||
|---|---|---|---|---|---|---|---|---|---|
| Other_name | CE31440:p.Gln298Ter | ||||||||
| CE27833:p.Gln258Ter | |||||||||
| C37F5.1a.1:c.892C>T | |||||||||
| C37F5.1b.1:c.772C>T | |||||||||
| HGVSg | CHROMOSOME_IV:g.2277437G>A | ||||||||
| Sequence_details | SMap | S_parent | Sequence | C37F5 | |||||
| Flanking_sequences | aacctgacagcaacctcgaatttctcctta | aaccgtcaatctcgtctccacttctgatgc | |||||||
| Mapping_target | C37F5 | ||||||||
| Type_of_mutation | Substitution | c | t | Paper_evidence | WBPaper00002352 | ||||
| SeqStatus | Sequenced | ||||||||
| Variation_type | Allele | ||||||||
| Origin | Species | Caenorhabditis elegans | |||||||
| Strain | WBStrain00026729 | ||||||||
| Laboratory | MT | ||||||||
| Status | Live | ||||||||
| Affects | Gene | WBGene00002990 | |||||||
| Transcript | C37F5.1a.1 | VEP_consequence | stop_gained | ||||||
| VEP_impact | HIGH | ||||||||
| HGVSc | C37F5.1a.1:c.892C>T | ||||||||
| HGVSp | CE31440:p.Gln298Ter | ||||||||
| cDNA_position | 892 | ||||||||
| CDS_position | 892 | ||||||||
| Protein_position | 298 | ||||||||
| Exon_number | 5/7 | ||||||||
| Codon_change | Caa/Taa | ||||||||
| Amino_acid_change | Q/* | ||||||||
| C37F5.1b.1 | VEP_consequence | stop_gained | |||||||
| VEP_impact | HIGH | ||||||||
| HGVSc | C37F5.1b.1:c.772C>T | ||||||||
| HGVSp | CE27833:p.Gln258Ter | ||||||||
| cDNA_position | 780 | ||||||||
| CDS_position | 772 | ||||||||
| Protein_position | 258 | ||||||||
| Exon_number | 4/6 | ||||||||
| Codon_change | Caa/Taa | ||||||||
| Amino_acid_change | Q/* | ||||||||
| Genetics | Interpolated_map_position | IV | -8.49015 | ||||||
| Description | Phenotype | WBPhenotype:0000700 | Paper_evidence | WBPaper00000762 | |||||
| Curator_confirmed | WBPerson2021 | ||||||||
| Recessive | Paper_evidence | WBPaper00000762 | |||||||
| Curator_confirmed | WBPerson2021 | ||||||||
| EQ_annotations | Life_stage | WBls:0000057 | PATO:0000460 | Paper_evidence | WBPaper00000762 | ||||
| Curator_confirmed | WBPerson2021 | ||||||||
| Reference | WBPaper00000762 | ||||||||
| WBPaper00012542 | |||||||||
| WBPaper00019805 | |||||||||
| WBPaper00012366 | |||||||||
| WBPaper00018847 | |||||||||
| WBPaper00026041 | |||||||||
| WBPaper00025674 | |||||||||
| WBPaper00018433 | |||||||||
| WBPaper00023120 | |||||||||
| Method | Substitution_allele |
