WormBase Tree Display for Variation: WBVar00323212
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| WBVar00323212 | Evidence | Paper_evidence | WBPaper00035548 | ||||
|---|---|---|---|---|---|---|---|
| Name | Public_name | n2589 | |||||
| Other_name | CE07380:p.Pro241Ser | ||||||
| K11G12.2.1:c.721C>T | |||||||
| HGVSg | CHROMOSOME_X:g.6707383C>T | ||||||
| Sequence_details | SMap | S_parent | Sequence | K11G12 | |||
| Flanking_sequences | caatatttcagtaatgtttttgcagatgtt | ctggacaattagtgcacaaacctgatttga | |||||
| Mapping_target | K11G12 | ||||||
| Type_of_mutation | Substitution | c | t | ||||
| SeqStatus | Sequenced | ||||||
| Variation_type | Allele | ||||||
| Origin | Species | Caenorhabditis elegans | |||||
| Laboratory | MT | ||||||
| Status | Live | ||||||
| Affects | Gene | WBGene00000042 | |||||
| Transcript | K11G12.2.1 | VEP_consequence | missense_variant | ||||
| VEP_impact | MODERATE | ||||||
| HGVSc | K11G12.2.1:c.721C>T | ||||||
| HGVSp | CE07380:p.Pro241Ser | ||||||
| cDNA_position | 864 | ||||||
| CDS_position | 721 | ||||||
| Protein_position | 241 | ||||||
| Exon_number | 7/15 | ||||||
| Codon_change | Cct/Tct | ||||||
| Amino_acid_change | P/S | ||||||
| Genetics | Interpolated_map_position | X | -2.5563 | ||||
| Description | Phenotype | WBPhenotype:0000688 | Person_evidence | WBPerson261 | |||
| Curator_confirmed | WBPerson712 | ||||||
| WBPhenotype:0000977 | Person_evidence | WBPerson261 | |||||
| Curator_confirmed | WBPerson712 | ||||||
| Remark | abnormal somatic gonad | Person_evidence | WBPerson261 | ||||
| Curator_confirmed | WBPerson712 | ||||||
| Reference | WBPaper00035548 | ||||||
| Method | Substitution_allele |
