WormBase Tree Display for Variation: WBVar00089728
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WBVar00089728 | Evidence | Paper_evidence | WBPaper00000762 | ||||||
---|---|---|---|---|---|---|---|---|---|
Name | Public_name | n757 | |||||||
Other_name | CE27833:p.Trp65Ter | ||||||||
C37F5.1b.1:c.194G>A | |||||||||
C37F5.1a.1:c.314G>A | |||||||||
CE31440:p.Trp105Ter | |||||||||
HGVSg | CHROMOSOME_IV:g.2278980C>T | ||||||||
Sequence_details | SMap | S_parent | Sequence | C37F5 | |||||
Flanking_sequences | tgattgatgcagaagccgtggcgagaaagt | gggacaacggaaggcgaaaccgcatatgaa | |||||||
Mapping_target | C37F5 | ||||||||
Type_of_mutation | Substitution | g | a | Paper_evidence | WBPaper00002352 | ||||
SeqStatus | Sequenced | ||||||||
Variation_type | Allele | ||||||||
Origin | Species | Caenorhabditis elegans | |||||||
Strain | WBStrain00027283 | ||||||||
Laboratory | MT | ||||||||
Status | Live | ||||||||
Affects | Gene | WBGene00305307 | |||||||
WBGene00002990 | |||||||||
Transcript | C37F5.1a.1 | VEP_consequence | stop_gained | ||||||
VEP_impact | HIGH | ||||||||
HGVSc | C37F5.1a.1:c.314G>A | ||||||||
HGVSp | CE31440:p.Trp105Ter | ||||||||
cDNA_position | 314 | ||||||||
CDS_position | 314 | ||||||||
Protein_position | 105 | ||||||||
Exon_number | 3/7 | ||||||||
Codon_change | tGg/tAg | ||||||||
Amino_acid_change | W/* | ||||||||
C37F5.1b.1 | VEP_consequence | stop_gained | |||||||
VEP_impact | HIGH | ||||||||
HGVSc | C37F5.1b.1:c.194G>A | ||||||||
HGVSp | CE27833:p.Trp65Ter | ||||||||
cDNA_position | 202 | ||||||||
CDS_position | 194 | ||||||||
Protein_position | 65 | ||||||||
Exon_number | 2/6 | ||||||||
Codon_change | tGg/tAg | ||||||||
Amino_acid_change | W/* | ||||||||
C37F5.2 | |||||||||
Genetics | Interpolated_map_position | IV | -8.47557 | ||||||
Mapping_data | In_multi_point | 872 | |||||||
873 | |||||||||
Description | Phenotype | WBPhenotype:0000700 | Paper_evidence | WBPaper00000762 | |||||
Curator_confirmed | WBPerson2021 | ||||||||
Recessive | Paper_evidence | WBPaper00000762 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
EQ_annotations | Life_stage | WBls:0000057 | PATO:0000460 | Paper_evidence | WBPaper00000762 | ||||
Curator_confirmed | WBPerson2021 | ||||||||
Reference | WBPaper00000762 | ||||||||
Method | Substitution_allele |