WormBase Tree Display for Variation: WBVar00142992
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WBVar00142992 | Evidence | Paper_evidence | WBPaper00003843 | |||||
---|---|---|---|---|---|---|---|---|
Name | Public_name | e141 | ||||||
Other_name | Y37E11AR.6a.1:c.269G>A | |||||||
CE27606:p.Cys90Tyr | ||||||||
HGVSg | CHROMOSOME_IV:g.3762606C>T | |||||||
Sequence_details | SMap | S_parent | Sequence | Y37E11AR | ||||
Flanking_sequences | ggaggtcgaaggcaaaggaactgggaagat | tacacagccgtatcaggaggagaagcttaa | ||||||
Mapping_target | Y37E11AR | |||||||
Type_of_mutation | Substitution | g | a | Paper_evidence | WBPaper00003843 | |||
SeqStatus | Sequenced | |||||||
Variation_type | Allele | |||||||
Origin | Species | Caenorhabditis elegans | ||||||
Laboratory | CB | |||||||
Status | Live | |||||||
Affects | Gene | WBGene00006869 | ||||||
Transcript | Y37E11AR.6a.1 | VEP_consequence | missense_variant | |||||
VEP_impact | MODERATE | |||||||
SIFT | 0 | deleterious | ||||||
PolyPhen | 1 | probably_damaging | ||||||
HGVSc | Y37E11AR.6a.1:c.269G>A | |||||||
HGVSp | CE27606:p.Cys90Tyr | |||||||
cDNA_position | 275 | |||||||
CDS_position | 269 | |||||||
Protein_position | 90 | |||||||
Exon_number | 3/6 | |||||||
Codon_change | tGt/tAt | |||||||
Amino_acid_change | C/Y | |||||||
Genetics | Interpolated_map_position | IV | -2.3012 | |||||
Description | Phenotype_not_observed | WBPhenotype:0000050 | Paper_evidence | WBPaper00031667 | ||||
Curator_confirmed | WBPerson712 | |||||||
Penetrance | High | Paper_evidence | WBPaper00031667 | |||||
Curator_confirmed | WBPerson712 | |||||||
Phenotype_assay | Temperature | 15 | Paper_evidence | WBPaper00031667 | ||||
Curator_confirmed | WBPerson712 | |||||||
Reference | WBPaper00031667 | |||||||
Method | Substitution_allele |