WormBase Tree Display for Variation: WBVar00275319
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| WBVar00275319 | Evidence | Paper_evidence | WBPaper00006355 | ||||
|---|---|---|---|---|---|---|---|
| Name | Public_name | y88 | |||||
| Other_name | CE26205:p.Lys1423Glu | ||||||
| Y59A8B.1a.1:c.4267A>G | |||||||
| HGVSg | CHROMOSOME_V:g.17939539T>C | ||||||
| Sequence_details | SMap | S_parent | Sequence | Y59A8B | |||
| Flanking_sequences | cccggtgaacaaatggtaccgacggacgga | agaatcggagcactgagccacgtcatccgc | |||||
| Mapping_target | Y59A8B | ||||||
| Type_of_mutation | Substitution | a | g | ||||
| SeqStatus | Sequenced | ||||||
| Variation_type | Allele | ||||||
| Origin | Species | Caenorhabditis elegans | |||||
| Laboratory | TY | ||||||
| Status | Live | ||||||
| Affects | Gene | WBGene00001080 | |||||
| Transcript | Y59A8B.1a.1 | VEP_consequence | missense_variant | ||||
| VEP_impact | MODERATE | ||||||
| SIFT | 0 | deleterious_low_confidence | |||||
| PolyPhen | 0.003 | benign | |||||
| HGVSc | Y59A8B.1a.1:c.4267A>G | ||||||
| HGVSp | CE26205:p.Lys1423Glu | ||||||
| cDNA_position | 4432 | ||||||
| CDS_position | 4267 | ||||||
| Protein_position | 1423 | ||||||
| Exon_number | 9/13 | ||||||
| Codon_change | Aag/Gag | ||||||
| Amino_acid_change | K/E | ||||||
| Genetics | Interpolated_map_position | V | 13.3321 | ||||
| Mapping_data | In_pos_neg_data | 4291 | |||||
| 4292 | |||||||
| 4293 | |||||||
| Description | Phenotype | WBPhenotype:0000006 | Paper_evidence | WBPaper00001077 | |||
| Curator_confirmed | WBPerson712 | ||||||
| Remark | Slightly Egl. | Paper_evidence | WBPaper00001077 | ||||
| Curator_confirmed | WBPerson712 | ||||||
| WBPhenotype:0000066 | Paper_evidence | WBPaper00001077 | |||||
| Curator_confirmed | WBPerson712 | ||||||
| Remark | 85% XX viable. | Paper_evidence | WBPaper00001077 | ||||
| Curator_confirmed | WBPerson712 | ||||||
| WBPhenotype:0000583 | Paper_evidence | WBPaper00001077 | |||||
| Curator_confirmed | WBPerson712 | ||||||
| Phenotype_not_observed | WBPhenotype:0000065 | Paper_evidence | WBPaper00001077 | ||||
| Curator_confirmed | WBPerson712 | ||||||
| Reference | WBPaper00001077 | ||||||
| WBPaper00013900 | |||||||
| Method | Substitution_allele |
