WormBase Tree Display for Variation: WBVar00089299
expand all nodes | collapse all nodes | view schema
| WBVar00089299 | Name | Public_name | n176 | ||||||
|---|---|---|---|---|---|---|---|---|---|
| Other_name | C37F5.1b.1:c.643C>T | ||||||||
| CE27833:p.Arg215Ter | |||||||||
| C37F5.1a.1:c.763C>T | |||||||||
| CE31440:p.Arg255Ter | |||||||||
| HGVSg | CHROMOSOME_IV:g.2277566G>A | ||||||||
| Sequence_details | SMap | S_parent | Sequence | C37F5 | |||||
| Flanking_sequences | tcatcccctgtagatgagtcccgacaatgc | gaaaacgatccctatcgccctccacgacgt | |||||||
| Mapping_target | C37F5 | ||||||||
| Type_of_mutation | Substitution | c | t | Paper_evidence | WBPaper00002352 | ||||
| SeqStatus | Sequenced | ||||||||
| Variation_type | Allele | ||||||||
| Origin | Species | Caenorhabditis elegans | |||||||
| Strain | WBStrain00026712 | ||||||||
| Laboratory | MT | ||||||||
| Status | Live | ||||||||
| Affects | Gene | WBGene00002990 | |||||||
| Transcript | C37F5.1a.1 | VEP_consequence | stop_gained | ||||||
| VEP_impact | HIGH | ||||||||
| HGVSc | C37F5.1a.1:c.763C>T | ||||||||
| HGVSp | CE31440:p.Arg255Ter | ||||||||
| cDNA_position | 763 | ||||||||
| CDS_position | 763 | ||||||||
| Protein_position | 255 | ||||||||
| Exon_number | 5/7 | ||||||||
| Codon_change | Cga/Tga | ||||||||
| Amino_acid_change | R/* | ||||||||
| C37F5.1b.1 | VEP_consequence | stop_gained | |||||||
| VEP_impact | HIGH | ||||||||
| HGVSc | C37F5.1b.1:c.643C>T | ||||||||
| HGVSp | CE27833:p.Arg215Ter | ||||||||
| cDNA_position | 651 | ||||||||
| CDS_position | 643 | ||||||||
| Protein_position | 215 | ||||||||
| Exon_number | 4/6 | ||||||||
| Codon_change | Cga/Tga | ||||||||
| Amino_acid_change | R/* | ||||||||
| Interactor | WBInteraction000500301 | ||||||||
| WBInteraction000500302 | |||||||||
| Genetics | Interpolated_map_position | IV | -8.48893 | ||||||
| Description | Phenotype | WBPhenotype:0000700 | Paper_evidence | WBPaper00000762 | |||||
| WBPaper00036232 | |||||||||
| Curator_confirmed | WBPerson2021 | ||||||||
| WBPerson712 | |||||||||
| Penetrance | Complete | Paper_evidence | WBPaper00036232 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Recessive | Paper_evidence | WBPaper00000762 | |||||||
| Curator_confirmed | WBPerson2021 | ||||||||
| EQ_annotations | Life_stage | WBls:0000057 | PATO:0000460 | Paper_evidence | WBPaper00000762 | ||||
| Curator_confirmed | WBPerson2021 | ||||||||
| Reference | WBPaper00000762 | ||||||||
| WBPaper00015978 | |||||||||
| WBPaper00036232 | |||||||||
| Method | Substitution_allele |
