WormBase Tree Display for Variation: WBVar00090511
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WBVar00090511 | Evidence | Paper_evidence | WBPaper00002351 | |||||
---|---|---|---|---|---|---|---|---|
Name | Public_name | n2526 | ||||||
Other_name | CE25854:p.Trp255Ter | |||||||
F13B9.5.1:c.764G>A | ||||||||
HGVSg | CHROMOSOME_X:g.8279740G>A | |||||||
Sequence_details | SMap | S_parent | Sequence | F13B9 | ||||
Flanking_sequences | cacaaatataactcaccggaaatttcagat | gaaggtccacacgcagtgcaaaggacgtgt | ||||||
Mapping_target | F13B9 | |||||||
Type_of_mutation | Substitution | g | a | Paper_evidence | WBPaper00002351 | |||
SeqStatus | Sequenced | |||||||
Variation_type | Allele | |||||||
Origin | Species | Caenorhabditis elegans | ||||||
Strain | WBStrain00027337 | |||||||
Laboratory | MT | |||||||
Status | Live | |||||||
Affects | Gene | WBGene00002239 | ||||||
Transcript | F13B9.5.1 | VEP_consequence | stop_gained,splice_region_variant | |||||
VEP_impact | HIGH | |||||||
HGVSc | F13B9.5.1:c.764G>A | |||||||
HGVSp | CE25854:p.Trp255Ter | |||||||
cDNA_position | 814 | |||||||
CDS_position | 764 | |||||||
Protein_position | 255 | |||||||
Exon_number | 8/16 | |||||||
Codon_change | tGg/tAg | |||||||
Amino_acid_change | W/* | |||||||
Isolation | Mutagen | EMS | Paper_evidence | WBPaper00002351 | ||||
Genetics | Interpolated_map_position | X | -0.200089 | |||||
Description | Phenotype | WBPhenotype:0000062 | Paper_evidence | WBPaper00031487 | ||||
Curator_confirmed | WBPerson43879 | |||||||
Penetrance | Low | Paper_evidence | WBPaper00031487 | |||||
Curator_confirmed | WBPerson43879 | |||||||
WBPhenotype:0000411 | Paper_evidence | WBPaper00031487 | ||||||
Curator_confirmed | WBPerson43879 | |||||||
Penetrance | Low | Paper_evidence | WBPaper00031487 | |||||
Curator_confirmed | WBPerson43879 | |||||||
Reference | WBPaper00010409 | |||||||
WBPaper00023691 | ||||||||
WBPaper00023321 | ||||||||
WBPaper00010771 | ||||||||
WBPaper00010263 | ||||||||
WBPaper00010199 | ||||||||
WBPaper00031487 | ||||||||
Method | Substitution_allele |