WormBase Tree Display for Variation: WBVar00000329
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| WBVar00000329 | Evidence | Paper_evidence | WBPaper00028766 | ||||
|---|---|---|---|---|---|---|---|
| Name | Public_name | ay36 | |||||
| Other_name | F31E3.1.1:c.236T>C | ||||||
| CE01241:p.Leu79Ser | |||||||
| HGVSg | CHROMOSOME_III:g.6980313T>C | ||||||
| Sequence_details | SMap | S_parent | Sequence | F31E3 | |||
| Flanking_sequences | atcctcaattaatgcgacttgataatatgt | agtggcggaaggcgttgcaggaccagataa | |||||
| Mapping_target | F31E3 | ||||||
| Type_of_mutation | Substitution | t | c | Paper_evidence | WBPaper00028766 | ||
| SeqStatus | Sequenced | ||||||
| Variation_type | Allele | ||||||
| Origin | Species | Caenorhabditis elegans | |||||
| Laboratory | NH | ||||||
| Status | Live | ||||||
| Affects | Gene | WBGene00000443 | |||||
| Transcript | F31E3.1.1 | VEP_consequence | missense_variant | ||||
| VEP_impact | MODERATE | ||||||
| HGVSc | F31E3.1.1:c.236T>C | ||||||
| HGVSp | CE01241:p.Leu79Ser | ||||||
| cDNA_position | 239 | ||||||
| CDS_position | 236 | ||||||
| Protein_position | 79 | ||||||
| Exon_number | 3/7 | ||||||
| Codon_change | tTa/tCa | ||||||
| Amino_acid_change | L/S | ||||||
| Genetics | Interpolated_map_position | III | -0.85326 | ||||
| Description | Phenotype | WBPhenotype:0000006 | Paper_evidence | WBPaper00028766 | |||
| Curator_confirmed | WBPerson557 | ||||||
| Variation_effect | Hypomorph_reduction_of_function | Paper_evidence | WBPaper00028766 | ||||
| Curator_confirmed | WBPerson557 | ||||||
| WBPhenotype:0000245 | Paper_evidence | WBPaper00028766 | |||||
| Curator_confirmed | WBPerson557 | ||||||
| Variation_effect | Hypomorph_reduction_of_function | Paper_evidence | WBPaper00028766 | ||||
| Curator_confirmed | WBPerson557 | ||||||
| WBPhenotype:0000643 | Paper_evidence | WBPaper00028766 | |||||
| Curator_confirmed | WBPerson557 | ||||||
| Remark | Weak Unc | Paper_evidence | WBPaper00028766 | ||||
| Curator_confirmed | WBPerson557 | ||||||
| Variation_effect | Hypomorph_reduction_of_function | Paper_evidence | WBPaper00028766 | ||||
| Curator_confirmed | WBPerson557 | ||||||
| Reference | WBPaper00028766 | ||||||
| Method | Substitution_allele |
