WormBase Tree Display for Variation: WBVar00089510
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| WBVar00089510 | Evidence | Paper_evidence | WBPaper00000762 | ||||||
|---|---|---|---|---|---|---|---|---|---|
| Name | Public_name | n431 | |||||||
| Other_name | C37F5.1b.1:c.805C>T | ||||||||
| CE31440:p.Gln309Ter | |||||||||
| CE27833:p.Gln269Ter | |||||||||
| C37F5.1a.1:c.925C>T | |||||||||
| HGVSg | CHROMOSOME_IV:g.2277404G>A | ||||||||
| Sequence_details | SMap | S_parent | Sequence | C37F5 | |||||
| Flanking_sequences | ccgtcaatctcgtctccacttctgatgctt | agcaacaccatcaaaactccccgctattcc | |||||||
| Mapping_target | C37F5 | ||||||||
| Type_of_mutation | Substitution | c | t | Paper_evidence | WBPaper00002352 | ||||
| SeqStatus | Sequenced | ||||||||
| Variation_type | Allele | ||||||||
| Origin | Species | Caenorhabditis elegans | |||||||
| Strain | WBStrain00026771 | ||||||||
| Laboratory | MT | ||||||||
| Status | Live | ||||||||
| Affects | Gene | WBGene00002990 | |||||||
| Transcript | C37F5.1a.1 | VEP_consequence | stop_gained | ||||||
| VEP_impact | HIGH | ||||||||
| HGVSc | C37F5.1a.1:c.925C>T | ||||||||
| HGVSp | CE31440:p.Gln309Ter | ||||||||
| cDNA_position | 925 | ||||||||
| CDS_position | 925 | ||||||||
| Protein_position | 309 | ||||||||
| Exon_number | 5/7 | ||||||||
| Codon_change | Cag/Tag | ||||||||
| Amino_acid_change | Q/* | ||||||||
| C37F5.1b.1 | VEP_consequence | stop_gained | |||||||
| VEP_impact | HIGH | ||||||||
| HGVSc | C37F5.1b.1:c.805C>T | ||||||||
| HGVSp | CE27833:p.Gln269Ter | ||||||||
| cDNA_position | 813 | ||||||||
| CDS_position | 805 | ||||||||
| Protein_position | 269 | ||||||||
| Exon_number | 4/6 | ||||||||
| Codon_change | Cag/Tag | ||||||||
| Amino_acid_change | Q/* | ||||||||
| Genetics | Interpolated_map_position | IV | -8.49046 | ||||||
| Description | Phenotype | WBPhenotype:0000700 | Paper_evidence | WBPaper00000762 | |||||
| Person_evidence | WBPerson261 | ||||||||
| Curator_confirmed | WBPerson2021 | ||||||||
| WBPerson712 | |||||||||
| Remark | phenotype resembles e1777 | Person_evidence | WBPerson261 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Recessive | Paper_evidence | WBPaper00000762 | |||||||
| Curator_confirmed | WBPerson2021 | ||||||||
| Variation_effect | Null | Paper_evidence | WBPaper00000762 | ||||||
| Curator_confirmed | WBPerson2021 | ||||||||
| EQ_annotations | Life_stage | WBls:0000057 | PATO:0000460 | Paper_evidence | WBPaper00000762 | ||||
| Curator_confirmed | WBPerson2021 | ||||||||
| Reference | WBPaper00000762 | ||||||||
| Method | Substitution_allele |
