WormBase Tree Display for Variation: WBVar00248922
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| WBVar00248922 | Evidence | Paper_evidence | WBPaper00001868 | ||||||
|---|---|---|---|---|---|---|---|---|---|
| Name | Public_name | sy161 | |||||||
| Other_name | K11D2.3c.1:c.28C>T | ||||||||
| K11D2.3a.1:c.475C>T | |||||||||
| CE28050:p.Arg159Cys | |||||||||
| CE45092:p.Arg10Cys | |||||||||
| HGVSg | CHROMOSOME_I:g.12510363C>T | ||||||||
| Sequence_details (5) | |||||||||
| Variation_type | Allele | ||||||||
| Origin | Species | Caenorhabditis elegans | |||||||
| Strain | WBStrain00030820 | ||||||||
| Laboratory | PS | ||||||||
| Status | Live | ||||||||
| Affects | Gene | WBGene00006829 | |||||||
| Transcript | K11D2.3c.1 (12) | ||||||||
| K11D2.3a.1 | VEP_consequence | missense_variant | |||||||
| VEP_impact | MODERATE | ||||||||
| SIFT | 0 | deleterious_low_confidence | |||||||
| PolyPhen | 1 | probably_damaging | |||||||
| HGVSc | K11D2.3a.1:c.475C>T | ||||||||
| HGVSp | CE28050:p.Arg159Cys | ||||||||
| cDNA_position | 731 | ||||||||
| CDS_position | 475 | ||||||||
| Protein_position | 159 | ||||||||
| Exon_number | 5/9 | ||||||||
| Codon_change | Cgc/Tgc | ||||||||
| Amino_acid_change | R/C | ||||||||
| Genetics | Interpolated_map_position | I | 13.3049 | ||||||
| Description | Phenotype | WBPhenotype:0000643 | Paper_evidence | WBPaper00001868 | |||||
| Curator_confirmed | WBPerson625 | ||||||||
| Remark | uncoordinated | Paper_evidence | WBPaper00001868 | ||||||
| Curator_confirmed | WBPerson625 | ||||||||
| WBPhenotype:0000699 | Paper_evidence | WBPaper00001868 | |||||||
| Curator_confirmed | WBPerson625 | ||||||||
| Remark | suppressor of vulvaless | Paper_evidence | WBPaper00001868 | ||||||
| Curator_confirmed | WBPerson625 | ||||||||
| EQ_annotations | Anatomy_term | WBbt:0006748 | PATO:0000460 | Paper_evidence | WBPaper00001868 | ||||
| Curator_confirmed | WBPerson625 | ||||||||
| Reference | WBPaper00001868 | ||||||||
| Method | Substitution_allele |
