WormBase Tree Display for Variation: WBVar00248946
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WBVar00248946 | Evidence | Paper_evidence | WBPaper00001868 | ||||
---|---|---|---|---|---|---|---|
Name | Public_name | sy237 | |||||
Other_name | CE45092:p.Trp9Ter | ||||||
K11D2.3a.1:c.473G>A | |||||||
K11D2.3c.1:c.26G>A | |||||||
CE28050:p.Trp158Ter | |||||||
HGVSg | CHROMOSOME_I:g.12510361G>A | ||||||
Sequence_details | SMap | S_parent | Sequence | K11D2 | |||
Flanking_sequences | ccccgatggcagtgacaaatgccgtctcat | gcgctctgaaggcataaaataccgaaaaaa | |||||
Mapping_target | K11D2 | ||||||
Type_of_mutation | Substitution | g | a | Paper_evidence | WBPaper00001868 | ||
SeqStatus | Sequenced | ||||||
Variation_type | Allele | ||||||
Origin | Species | Caenorhabditis elegans | |||||
Strain | WBStrain00030825 | ||||||
Laboratory | PS | ||||||
Status | Live | ||||||
Affects | Gene | WBGene00006829 | |||||
Transcript | K11D2.3c.1 | VEP_consequence | stop_gained | ||||
VEP_impact | HIGH | ||||||
HGVSc | K11D2.3c.1:c.26G>A | ||||||
HGVSp | CE45092:p.Trp9Ter | ||||||
cDNA_position | 26 | ||||||
CDS_position | 26 | ||||||
Protein_position | 9 | ||||||
Exon_number | 1/4 | ||||||
Codon_change | tGg/tAg | ||||||
Amino_acid_change | W/* | ||||||
K11D2.3a.1 | VEP_consequence | stop_gained | |||||
VEP_impact | HIGH | ||||||
HGVSc | K11D2.3a.1:c.473G>A | ||||||
HGVSp | CE28050:p.Trp158Ter | ||||||
cDNA_position | 729 | ||||||
CDS_position | 473 | ||||||
Protein_position | 158 | ||||||
Exon_number | 5/9 | ||||||
Codon_change | tGg/tAg | ||||||
Amino_acid_change | W/* | ||||||
Genetics | Interpolated_map_position | I | 13.3049 | ||||
Description | Phenotype | WBPhenotype:0000643 | Paper_evidence | WBPaper00001868 | |||
Curator_confirmed | WBPerson625 | ||||||
Remark | uncoordinated | Paper_evidence | WBPaper00001868 | ||||
Curator_confirmed | WBPerson625 | ||||||
Reference | WBPaper00001868 | ||||||
Method | Substitution_allele |