WormBase Tree Display for Variation: WBVar00241324
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| WBVar00241324 | Evidence | Paper_evidence | WBPaper00001234 | ||||
|---|---|---|---|---|---|---|---|
| Name | Public_name | r344 | |||||
| Other_name | CE09349:p.Gly174Glu | ||||||
| F11C3.3.1:c.521G>A | |||||||
| HGVSg | CHROMOSOME_I:g.14861839C>T | ||||||
| Sequence_details | SMap | S_parent | Sequence | F11C3 | |||
| Flanking_sequences | accacgagaaccagtctatgctcattaccg | agaatctggagccggaaagactgagaacac | |||||
| Mapping_target | F11C3 | ||||||
| Type_of_mutation | Substitution | g | a | Paper_evidence | WBPaper00001234 | ||
| SeqStatus | Sequenced | ||||||
| Variation_type | Allele | ||||||
| Origin | Species | Caenorhabditis elegans | |||||
| Laboratory | TR | ||||||
| Status | Live | ||||||
| Affects | Gene | WBGene00006789 | |||||
| Transcript | F11C3.3.1 | VEP_consequence | missense_variant | ||||
| VEP_impact | MODERATE | ||||||
| SIFT | 0 | deleterious | |||||
| PolyPhen | 1 | probably_damaging | |||||
| HGVSc | F11C3.3.1:c.521G>A | ||||||
| HGVSp | CE09349:p.Gly174Glu | ||||||
| cDNA_position | 553 | ||||||
| CDS_position | 521 | ||||||
| Protein_position | 174 | ||||||
| Exon_number | 5/11 | ||||||
| Codon_change | gGa/gAa | ||||||
| Amino_acid_change | G/E | ||||||
| Genetics | Interpolated_map_position | I | 27.9622 | ||||
| Description | Phenotype | WBPhenotype:0000062 | Person_evidence | WBPerson261 | |||
| Curator_confirmed | WBPerson712 | ||||||
| Recessive | Person_evidence | WBPerson261 | |||||
| Curator_confirmed | WBPerson712 | ||||||
| WBPhenotype:0000644 | Person_evidence | WBPerson261 | |||||
| Curator_confirmed | WBPerson712 | ||||||
| Remark | severely paralysed | Person_evidence | WBPerson261 | ||||
| Curator_confirmed | WBPerson712 | ||||||
| Dominant | Person_evidence | WBPerson261 | |||||
| Curator_confirmed | WBPerson712 | ||||||
| Variation_effect | Dominant_negative_gain_of_function | Person_evidence | WBPerson261 | ||||
| Curator_confirmed | WBPerson712 | ||||||
| Reference | WBPaper00001234 | ||||||
| Method | Substitution_allele |
