WormBase Tree Display for Variation: WBVar00088031
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WBVar00088031 | Evidence | Paper_evidence | WBPaper00003944 | |||||
---|---|---|---|---|---|---|---|---|
Name | Public_name | it75 | ||||||
Other_name | CE27410:p.Trp374Ter | |||||||
Y59A8B.14c.1:c.1110G>A | ||||||||
CE46081:p.Trp370Ter | ||||||||
Y59A8B.14a.1:c.1122G>A | ||||||||
Y59A8B.14b.1:c.699G>A | ||||||||
CE46046:p.Trp233Ter | ||||||||
HGVSg | CHROMOSOME_V:g.18104227G>A | |||||||
Sequence_details | SMap | S_parent | Sequence | Y37H2A | ||||
Flanking_sequences | tttttccagtggctacaaagcggatatgtg | agtgcaggtgtcaccctgtacaacctggtt | ||||||
Mapping_target | Y37H2A | |||||||
Type_of_mutation | Substitution | g | a | Paper_evidence | WBPaper00003944 | |||
SeqStatus | Sequenced | |||||||
Variation_type | Allele | |||||||
Origin | Species | Caenorhabditis elegans | ||||||
Laboratory | KK | |||||||
Status | Live | |||||||
Affects | Gene | WBGene00003919 | ||||||
Transcript | Y59A8B.14a.1 | VEP_consequence | stop_gained | |||||
VEP_impact | HIGH | |||||||
HGVSc | Y59A8B.14a.1:c.1122G>A | |||||||
HGVSp | CE27410:p.Trp374Ter | |||||||
cDNA_position | 1122 | |||||||
CDS_position | 1122 | |||||||
Protein_position | 374 | |||||||
Exon_number | 8/11 | |||||||
Codon_change | tgG/tgA | |||||||
Amino_acid_change | W/* | |||||||
Y59A8B.14b.1 | VEP_consequence | stop_gained | ||||||
VEP_impact | HIGH | |||||||
HGVSc | Y59A8B.14b.1:c.699G>A | |||||||
HGVSp | CE46046:p.Trp233Ter | |||||||
cDNA_position | 699 | |||||||
CDS_position | 699 | |||||||
Protein_position | 233 | |||||||
Exon_number | 5/8 | |||||||
Codon_change | tgG/tgA | |||||||
Amino_acid_change | W/* | |||||||
Y59A8B.14c.1 | VEP_consequence | stop_gained | ||||||
VEP_impact | HIGH | |||||||
HGVSc | Y59A8B.14c.1:c.1110G>A | |||||||
HGVSp | CE46081:p.Trp370Ter | |||||||
cDNA_position | 1110 | |||||||
CDS_position | 1110 | |||||||
Protein_position | 370 | |||||||
Exon_number | 8/11 | |||||||
Codon_change | tgG/tgA | |||||||
Amino_acid_change | W/* | |||||||
Interactor | WBInteraction000523981 | |||||||
Genetics | Interpolated_map_position | V | 14.1065 | |||||
Description | Phenotype | WBPhenotype:0000050 | Paper_evidence | WBPaper00032251 | ||||
Curator_confirmed | WBPerson2987 | |||||||
Remark | Table S4 | Paper_evidence | WBPaper00032251 | |||||
Curator_confirmed | WBPerson2987 | |||||||
Penetrance | Complete | 100 | Paper_evidence | WBPaper00032251 | ||||
Curator_confirmed | WBPerson2987 | |||||||
Reference | WBPaper00003944 | |||||||
WBPaper00032251 | ||||||||
Method | Substitution_allele |