WormBase Tree Display for Variation: WBVar00239440
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WBVar00239440 | Evidence | Paper_evidence | WBPaper00029257 | ||
---|---|---|---|---|---|
Name | Public_name | pk2299 | |||
Other_name | F55A4.5.1:c.262C>T | ||||
CE11107:p.Arg88Ter | |||||
HGVSg | CHROMOSOME_X:g.1034310G>A | ||||
Sequence_details | SMap | S_parent | Sequence | F55A4 | |
Flanking_sequences | GCGTTCATAAAATAAAAATTCCAGATAGCT | GATTCAACAAGCTGCGGCACGTTTACAATT | |||
Mapping_target | F55A4 | ||||
Type_of_mutation | Substitution | C | T | ||
SeqStatus | Sequenced | ||||
Variation_type | Allele | ||||
Origin | Species | Caenorhabditis elegans | |||
Laboratory | NL | ||||
Status | Live | ||||
Affects | Gene | WBGene00018857 | |||
Transcript | F55A4.5.1 | VEP_consequence | stop_gained | ||
VEP_impact | HIGH | ||||
HGVSc | F55A4.5.1:c.262C>T | ||||
HGVSp | CE11107:p.Arg88Ter | ||||
cDNA_position | 362 | ||||
CDS_position | 262 | ||||
Protein_position | 88 | ||||
Exon_number | 4/13 | ||||
Codon_change | Cga/Tga | ||||
Amino_acid_change | R/* | ||||
Genetics | Interpolated_map_position | X | -18.8083 | ||
Reference | WBPaper00029257 | ||||
Remark | well:4-h16, gene:F55A4.5, position:1935, change:R88X | ||||
Manually curated Gene associations preserved as a text remark so that VEP is the canonical predictor of consequence: WBGene00018857 Nonsense | |||||
Method | Substitution_allele |