WormBase Tree Display for Variation: WBVar00000193
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| WBVar00000193 | Evidence | Paper_evidence | WBPaper00005256 | ||||
|---|---|---|---|---|---|---|---|
| Name | Public_name | ar103 | |||||
| Other_name | CE27425:p.Gln140Ter | ||||||
| F22B5.1.1:c.418C>T | |||||||
| HGVSg | CHROMOSOME_II:g.8444774C>T | ||||||
| Sequence_details | SMap | S_parent | Sequence | F22B5 | |||
| Flanking_sequences | ccaggggccattgatgtgaattcaatagca | aggtaattcagatgtcttcagtatatactt | |||||
| Mapping_target | F22B5 | ||||||
| Type_of_mutation | Substitution | c | t | ||||
| SeqStatus | Sequenced | ||||||
| Variation_type | Allele | ||||||
| Origin | Species | Caenorhabditis elegans | |||||
| Strain | WBStrain00007993 | ||||||
| Laboratory | GS | ||||||
| Status | Live | ||||||
| Affects | Gene | WBGene00001358 | |||||
| Transcript | F22B5.1.1 | VEP_consequence | stop_gained,splice_region_variant | ||||
| VEP_impact | HIGH | ||||||
| HGVSc | F22B5.1.1:c.418C>T | ||||||
| HGVSp | CE27425:p.Gln140Ter | ||||||
| cDNA_position | 418 | ||||||
| CDS_position | 418 | ||||||
| Protein_position | 140 | ||||||
| Exon_number | 2/4 | ||||||
| Codon_change | Cag/Tag | ||||||
| Amino_acid_change | Q/* | ||||||
| Genetics | Interpolated_map_position | II | 0.778236 | ||||
| Description | Phenotype | WBPhenotype:0000288 | Person_evidence | WBPerson261 | |||
| Curator_confirmed | WBPerson712 | ||||||
| Remark | distal germline abnormal | Person_evidence | WBPerson261 | ||||
| Curator_confirmed | WBPerson712 | ||||||
| WBPhenotype:0000289 | Person_evidence | WBPerson261 | |||||
| Curator_confirmed | WBPerson712 | ||||||
| Remark | abnormal uterus | Person_evidence | WBPerson261 | ||||
| Curator_confirmed | WBPerson712 | ||||||
| WBPhenotype:0000290 | Person_evidence | WBPerson261 | |||||
| Curator_confirmed | WBPerson712 | ||||||
| Remark | no sperm | Person_evidence | WBPerson261 | ||||
| Curator_confirmed | WBPerson712 | ||||||
| WBPhenotype:0000291 | Person_evidence | WBPerson261 | |||||
| Curator_confirmed | WBPerson712 | ||||||
| Remark | no oocytes | 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 | ||||||
| Phenotype_not_observed | WBPhenotype:0001652 | Paper_evidence | WBPaper00032446 | ||||
| Curator_confirmed | WBPerson2021 | ||||||
| Reference | WBPaper00032446 | ||||||
| Method | Substitution_allele |
