WormBase Tree Display for Variation: WBVar00142925
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WBVar00142925 | Evidence | Paper_evidence | WBPaper00005177 | ||||||
---|---|---|---|---|---|---|---|---|---|
Name | Public_name | e33 | |||||||
Other_name | CE20819:p.Trp173Ter | ||||||||
F46E10.9.1:c.519G>A | |||||||||
F46E10.9.2:c.519G>A | |||||||||
HGVSg | CHROMOSOME_V:g.6512399C>T | ||||||||
Sequence_details | SMap | S_parent | Sequence | F46E10 | |||||
Flanking_sequences | tctcgtcgaagataagggaatcccatcatg | gccagctacggactcttcgccggagttact | |||||||
Mapping_target | F46E10 | ||||||||
Type_of_mutation | Substitution | g | a | Paper_evidence | WBPaper00005177 | ||||
SeqStatus | Sequenced | ||||||||
Variation_type | Allele | ||||||||
Origin | Species | Caenorhabditis elegans | |||||||
Laboratory | CB | ||||||||
Status | Live | ||||||||
Affects | Gene | WBGene00001073 | |||||||
Transcript | F46E10.9.2 | VEP_consequence | stop_gained | ||||||
VEP_impact | HIGH | ||||||||
HGVSc | F46E10.9.2:c.519G>A | ||||||||
HGVSp | CE20819:p.Trp173Ter | ||||||||
cDNA_position | 673 | ||||||||
CDS_position | 519 | ||||||||
Protein_position | 173 | ||||||||
Exon_number | 6/9 | ||||||||
Codon_change | tgG/tgA | ||||||||
Amino_acid_change | W/* | ||||||||
F46E10.9.1 | VEP_consequence | stop_gained | |||||||
VEP_impact | HIGH | ||||||||
HGVSc | F46E10.9.1:c.519G>A | ||||||||
HGVSp | CE20819:p.Trp173Ter | ||||||||
cDNA_position | 520 | ||||||||
CDS_position | 519 | ||||||||
Protein_position | 173 | ||||||||
Exon_number | 5/8 | ||||||||
Codon_change | tgG/tgA | ||||||||
Amino_acid_change | W/* | ||||||||
Genetics | Interpolated_map_position | V | -0.0118593 | ||||||
Mapping_data | In_2_point | 132 | |||||||
Description | Phenotype | WBPhenotype:0000505 | Paper_evidence | WBPaper00005177 | |||||
Curator_confirmed | WBPerson2987 | ||||||||
Remark | "Strong Dpy and Ram phenotypes were found in e33, e207, e504, e752, e794, e1180 and s261 alleles (Fig. 1 B, J)." | Paper_evidence | WBPaper00005177 | ||||||
Curator_confirmed | WBPerson2987 | ||||||||
EQ_annotations | GO_term | GO:0048666 | PATO:0000460 | Paper_evidence | WBPaper00005177 | ||||
Curator_confirmed | WBPerson2987 | ||||||||
WBPhenotype:0000583 | Paper_evidence | WBPaper00005177 | |||||||
Person_evidence | WBPerson261 | ||||||||
Curator_confirmed | WBPerson712 | ||||||||
WBPerson2987 | |||||||||
Remark | stronger dumpy than e224, or 'piggy' phenotype | Person_evidence | WBPerson261 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
"Strong Dpy and Ram phenotypes were found in e33, e207, e504, e752, e794, e1180 and s261 alleles (Fig. 1 B, J)." | Paper_evidence | WBPaper00005177 | |||||||
Curator_confirmed | WBPerson2987 | ||||||||
Temperature_sensitive | Heat_sensitive | 25 | Person_evidence | WBPerson261 | |||||
Curator_confirmed | WBPerson712 | ||||||||
Reference | WBPaper00005177 | ||||||||
Method | Substitution_allele |