WormBase Tree Display for Variation: WBVar00278478
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| WBVar00278478 | Evidence | Paper_evidence | WBPaper00033045 | ||||||
|---|---|---|---|---|---|---|---|---|---|
| Name | Public_name | gv560 | |||||||
| Other_name | F45B8.4.1:c.668C>T | ||||||||
| CE24977:p.Ser223Phe | |||||||||
| HGVSg | CHROMOSOME_X:g.14951767G>A | ||||||||
| Sequence_details | SMap | S_parent | Sequence | F45B8 | |||||
| Flanking_sequences | ctgtatgtggaaaagcgttcagtcagtctt | taaccttatcacccacacacgaaaacacac | |||||||
| Mapping_target | F45B8 | ||||||||
| Type_of_mutation | Substitution | c | t | Paper_evidence | WBPaper00033045 | ||||
| SeqStatus | Sequenced | ||||||||
| Variation_type | Allele | ||||||||
| Origin | Species | Caenorhabditis elegans | |||||||
| Laboratory | KM | ||||||||
| Status | Live | ||||||||
| Affects | Gene | WBGene00003909 | |||||||
| Transcript | F45B8.4.1 | VEP_consequence | missense_variant | ||||||
| VEP_impact | MODERATE | ||||||||
| HGVSc | F45B8.4.1:c.668C>T | ||||||||
| HGVSp | CE24977:p.Ser223Phe | ||||||||
| cDNA_position | 795 | ||||||||
| CDS_position | 668 | ||||||||
| Protein_position | 223 | ||||||||
| Exon_number | 8/12 | ||||||||
| Codon_change | tCt/tTt | ||||||||
| Amino_acid_change | S/F | ||||||||
| Interactor | WBInteraction000503955 | ||||||||
| Genetics | Interpolated_map_position | X | 21.5907 | ||||||
| Description | Phenotype | WBPhenotype:0000643 | Paper_evidence | WBPaper00033045 | |||||
| Curator_confirmed | WBPerson2238 | ||||||||
| Remark | A reverse kinker uncoordinated phenotype | Paper_evidence | WBPaper00033045 | ||||||
| Curator_confirmed | WBPerson2238 | ||||||||
| WBPhenotype:0001236 | Paper_evidence | WBPaper00033045 | |||||||
| Curator_confirmed | WBPerson2238 | ||||||||
| Remark | Increased expression levels of IDA-1::GFP in a subset of neurons (such as VC4, VC5 and ALA, et al.) | Paper_evidence | WBPaper00033045 | ||||||
| Curator_confirmed | WBPerson2238 | ||||||||
| EQ_annotations | Anatomy_term | WBbt:0004617 | PATO:0000460 | Paper_evidence | WBPaper00033045 | ||||
| Curator_confirmed | WBPerson2238 | ||||||||
| WBbt:0004613 | PATO:0000460 | Paper_evidence | WBPaper00033045 | ||||||
| Curator_confirmed | WBPerson2238 | ||||||||
| WBbt:0003955 | PATO:0000460 | Paper_evidence | WBPaper00033045 | ||||||
| Curator_confirmed | WBPerson2238 | ||||||||
| Phenotype_assay | Genotype | IDA-1::GFP | Paper_evidence | WBPaper00033045 | |||||
| Curator_confirmed | WBPerson2238 | ||||||||
| Reference | WBPaper00033045 | ||||||||
| Method | Substitution_allele |
