WormBase Tree Display for Variation: WBVar00000186
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| WBVar00000186 | Evidence | Paper_evidence | WBPaper00006163 | ||||
|---|---|---|---|---|---|---|---|
| Name | Public_name | ar96 | |||||
| Other_name | H38K22.1.1:c.1114C>T | ||||||
| CE33526:p.Arg372Ter | |||||||
| HGVSg | CHROMOSOME_III:g.4311123G>A | ||||||
| Sequence_details | SMap | S_parent | Sequence | H38K22 | |||
| Flanking_sequences | ttcaggtctatcgatcaagatgatagtgtt | gacacgaatttgtgcaacaatcgaaagata | |||||
| Mapping_target | H38K22 | ||||||
| Type_of_mutation | Substitution | c | t | Paper_evidence | WBPaper00006349 | ||
| SeqStatus | Sequenced | ||||||
| Variation_type | Allele | ||||||
| Origin | Species | Caenorhabditis elegans | |||||
| Strain | WBStrain00007990 | ||||||
| Laboratory | GS | ||||||
| Status | Live | ||||||
| Affects | Gene | WBGene00001352 | |||||
| Transcript | H38K22.1.1 | VEP_consequence | stop_gained | ||||
| VEP_impact | HIGH | ||||||
| HGVSc | H38K22.1.1:c.1114C>T | ||||||
| HGVSp | CE33526:p.Arg372Ter | ||||||
| cDNA_position | 1118 | ||||||
| CDS_position | 1114 | ||||||
| Protein_position | 372 | ||||||
| Exon_number | 8/23 | ||||||
| Codon_change | Cga/Tga | ||||||
| Amino_acid_change | R/* | ||||||
| Genetics | Interpolated_map_position | III | -3.1952 | ||||
| Description | Phenotype | WBPhenotype:0000289 | Person_evidence | WBPerson261 | |||
| Curator_confirmed | WBPerson712 | ||||||
| Remark | abnormal uterus | Person_evidence | WBPerson261 | ||||
| Curator_confirmed | WBPerson712 | ||||||
| WBPhenotype:0000510 | Person_evidence | WBPerson261 | |||||
| Curator_confirmed | WBPerson712 | ||||||
| Remark | no L4 vulval invagination | Person_evidence | WBPerson261 | ||||
| Curator_confirmed | WBPerson712 | ||||||
| WBPhenotype:0000688 | Person_evidence | WBPerson261 | |||||
| Curator_confirmed | WBPerson712 | ||||||
| Remark | sterile | Person_evidence | WBPerson261 | ||||
| Curator_confirmed | WBPerson712 | ||||||
| WBPhenotype:0000696 | Person_evidence | WBPerson261 | |||||
| Curator_confirmed | WBPerson712 | ||||||
| Remark | everted vulva | Person_evidence | WBPerson261 | ||||
| Curator_confirmed | WBPerson712 | ||||||
| WBPhenotype:0001260 | Person_evidence | WBPerson261 | |||||
| Curator_confirmed | WBPerson712 | ||||||
| Remark | abnormal oocytes | Person_evidence | WBPerson261 | ||||
| Curator_confirmed | WBPerson712 | ||||||
| Reference | WBPaper00006163 | ||||||
| Method | Substitution_allele |
