WormBase Tree Display for Variation: WBVar00144729
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WBVar00144729 | Evidence | Paper_evidence | WBPaper00003757 | ||
---|---|---|---|---|---|
Name | Public_name | e2309 | |||
Other_name | CE01560:p.Trp98Ter | ||||
F26C11.2.1:c.293delinsA | |||||
HGVSg | CHROMOSOME_II:g.9899422delinsT | ||||
Sequence_details | SMap | S_parent | Sequence | F26C11 | |
Flanking_sequences | tgaatcactaaaaaatcaaattttcaggtt | caactggaagagctcgaatcagcattcgaa | |||
Mapping_target | F26C11 | ||||
Type_of_mutation | Substitution | gg | rr | ||
SeqStatus | Sequenced | ||||
Variation_type | Allele | ||||
Origin | Species | Caenorhabditis elegans | |||
Strain | WBStrain00004549 | ||||
Laboratory | CB | ||||
Status | Live | ||||
Affects | Gene | WBGene00006744 | |||
Transcript | F26C11.2.1 | VEP_consequence | stop_gained | ||
VEP_impact | HIGH | ||||
HGVSc | F26C11.2.1:c.293delinsA | ||||
HGVSp | CE01560:p.Trp98Ter | ||||
cDNA_position | 412-413 | ||||
CDS_position | 293-294 | ||||
Protein_position | 98 | ||||
Exon_number | 4/8 | ||||
Codon_change | tGG/tAG | ||||
Amino_acid_change | W/* | ||||
Genetics | Interpolated_map_position | II | 1.77028 | ||
Description | Phenotype | WBPhenotype:0002514 | Paper_evidence | WBPaper00001502 | |
Curator_confirmed | WBPerson48777 | ||||
Reference | WBPaper00003757 | ||||
WBPaper00001502 | |||||
WBPaper00061175 | |||||
Remark | Manually curated Gene associations preserved as a text remark so that VEP is the canonical predictor of consequence: WBGene00006744 Amber_UAG_or_Opal_UGA W(98) to stop | Paper_evidence | WBPaper00003757 | ||
Variation stub/paper connection generated from the May 2021 NN VFP dataset. | |||||
Created by WBPerson51134 from the NN_VFP_triage_pipeline | |||||
Method | Substitution_allele |