WormBase Tree Display for Variation: WBVar00144752
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WBVar00144752 | Evidence | Paper_evidence | WBPaper00029148 | ||||
---|---|---|---|---|---|---|---|
Name | Public_name | e2333 | |||||
Other_name | CE16260:p.Trp593Ter | ||||||
LLC1.1a.1:c.1778delinsA | |||||||
HGVSg | CHROMOSOME_IV:g.14436848delinsT | ||||||
Sequence_details | SMap | S_parent | Sequence | LLC1 | |||
Flanking_sequences | aaaatcgtcagcaatacaaaatcgaagtgt | gaagatcgtaaaatggctcgagaccacct | |||||
Mapping_target | LLC1 | ||||||
Type_of_mutation | Substitution | gg | rr | Paper_evidence | WBPaper00029148 | ||
SeqStatus | Sequenced | ||||||
Variation_type | Allele | ||||||
Origin | Species | Caenorhabditis elegans | |||||
Strain | WBStrain00004559 | ||||||
WBStrain00040924 | |||||||
Laboratory | CB | ||||||
Status | Live | ||||||
Affects | Gene | WBGene00006606 | |||||
Transcript | LLC1.1a.1 | VEP_consequence | stop_gained | ||||
VEP_impact | HIGH | ||||||
HGVSc | LLC1.1a.1:c.1778delinsA | ||||||
HGVSp | CE16260:p.Trp593Ter | ||||||
cDNA_position | 1812-1813 | ||||||
CDS_position | 1778-1779 | ||||||
Protein_position | 593 | ||||||
Exon_number | 9/10 | ||||||
Codon_change | tGG/tAG | ||||||
Amino_acid_change | W/* | ||||||
Genetics | Interpolated_map_position | IV | 11.9592 | ||||
Description (2) | |||||||
Reference | WBPaper00013706 | ||||||
Remark | e2333 is either a W(593) to Amber or W(593) to Ochre | Paper_evidence | WBPaper00029148 | ||||
Person_evidence | WBPerson1742 | ||||||
Manually curated Gene associations preserved as a text remark so that VEP is the canonical predictor of consequence: WBGene00006606 Nonsense | |||||||
Method | Substitution_allele |