WormBase Tree Display for Variation: WBVar00090645
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WBVar00090645 | Evidence | Paper_evidence | WBPaper00005800 | ||||||
---|---|---|---|---|---|---|---|---|---|
Name | Public_name | n3037 | |||||||
Other_name | CE25190:p.Arg225Ter | ||||||||
Y110A2AL.14.1:c.673C>T | |||||||||
HGVSg | CHROMOSOME_II:g.2891322G>A | ||||||||
Sequence_details | SMap | S_parent | Sequence | Y110A2AL | |||||
Flanking_sequences | ggtggttatgtgctctcttatgagctcatt | gattcttggcaatcaatgcccaactcttcc | |||||||
Mapping_target | Y110A2AL | ||||||||
Type_of_mutation | Substitution | c | t | Paper_evidence | WBPaper00005800 | ||||
SeqStatus | Sequenced | ||||||||
Variation_type | Allele | ||||||||
Origin | Species | Caenorhabditis elegans | |||||||
Laboratory | MT | ||||||||
Status | Live | ||||||||
Affects | Gene | WBGene00005020 | |||||||
Transcript | Y110A2AL.14.1 | VEP_consequence | stop_gained | ||||||
VEP_impact | HIGH | ||||||||
HGVSc | Y110A2AL.14.1:c.673C>T | ||||||||
HGVSp | CE25190:p.Arg225Ter | ||||||||
cDNA_position | 688 | ||||||||
CDS_position | 673 | ||||||||
Protein_position | 225 | ||||||||
Exon_number | 4/6 | ||||||||
Codon_change | Cga/Tga | ||||||||
Amino_acid_change | R/* | ||||||||
Genetics | Interpolated_map_position | II | -9.49631 | ||||||
Description | Phenotype (12) | ||||||||
Phenotype_not_observed | WBPhenotype:0000707 | Paper_evidence | WBPaper00031153 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | Homozygous larva from either heterozygous or homozygous hermaphrodites do not have pharyngeal development defects (0/80). | Paper_evidence | WBPaper00031153 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
EQ_annotations | Life_stage | WBls:0000023 | PATO:0000460 | Paper_evidence | WBPaper00031153 | ||||
Curator_confirmed | WBPerson712 | ||||||||
Reference | WBPaper00003405 | ||||||||
WBPaper00031153 | |||||||||
WBPaper00005800 | |||||||||
Method | Substitution_allele |