WormBase Tree Display for Variation: WBVar00090662
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WBVar00090662 | Evidence | Paper_evidence | WBPaper00005229 | ||
---|---|---|---|---|---|
Name | Public_name | n3098 | |||
Other_name | F45B8.4.1:c.339G>A | ||||
CE24977:p.Trp113Ter | |||||
HGVSg | CHROMOSOME_X:g.14954042C>T | ||||
Sequence_details | SMap | S_parent | Sequence | F45B8 | |
Flanking_sequences | acattaatatgtattttaagcttcagtttg | aatcgaacaccgacacctccagtggaaatc | |||
Mapping_target | F45B8 | ||||
Type_of_mutation | Substitution | g | a | ||
SeqStatus | Sequenced | ||||
Variation_type | Allele | ||||
Origin | Species | Caenorhabditis elegans | |||
Strain | WBStrain00027353 | ||||
Laboratory | MT | ||||
Status | Live | ||||
Affects | Gene | WBGene00003909 | |||
Transcript | F45B8.4.1 | VEP_consequence | stop_gained | ||
VEP_impact | HIGH | ||||
HGVSc | F45B8.4.1:c.339G>A | ||||
HGVSp | CE24977:p.Trp113Ter | ||||
cDNA_position | 466 | ||||
CDS_position | 339 | ||||
Protein_position | 113 | ||||
Exon_number | 5/12 | ||||
Codon_change | tgG/tgA | ||||
Amino_acid_change | W/* | ||||
Genetics | Interpolated_map_position | X | 21.5929 | ||
Description | Phenotype | WBPhenotype:0000643 | Paper_evidence | WBPaper00005229 | |
Curator_confirmed | WBPerson88 | ||||
Disease_info | Models_disease | DOID:1574 | |||
Models_disease_in_annotation | WBDOannot00000696 | ||||
Reference | WBPaper00005229 | ||||
Method | Substitution_allele |