WormBase Tree Display for Variation: WBVar00089188
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WBVar00089188 | Evidence | Paper_evidence | WBPaper00005322 | |||||
---|---|---|---|---|---|---|---|---|
Name | Public_name | mr17 | ||||||
Other_name | CE28104:p.Gly1024Glu | |||||||
Y110A7A.1a.1:c.3071G>A | ||||||||
CE24117:p.Gly1024Glu | ||||||||
Y110A7A.1b.1:c.3071G>A | ||||||||
HGVSg | CHROMOSOME_I:g.5168569G>A | |||||||
Sequence_details (5) | ||||||||
Variation_type | Allele | |||||||
Origin | Species | Caenorhabditis elegans | ||||||
Strain | WBStrain00000213 | |||||||
WBStrain00000214 | ||||||||
Laboratory | AR | |||||||
Status | Live | |||||||
Affects | Gene | WBGene00001833 | ||||||
Transcript | Y110A7A.1b.1 | VEP_consequence | missense_variant | |||||
VEP_impact | MODERATE | |||||||
SIFT | 0.02 | deleterious | ||||||
PolyPhen | 0.972 | probably_damaging | ||||||
HGVSc | Y110A7A.1b.1:c.3071G>A | |||||||
HGVSp | CE28104:p.Gly1024Glu | |||||||
cDNA_position | 3080 | |||||||
CDS_position | 3071 | |||||||
Protein_position | 1024 | |||||||
Exon_number | 9/14 | |||||||
Codon_change | gGa/gAa | |||||||
Amino_acid_change | G/E | |||||||
Y110A7A.1a.1 (12) | ||||||||
Interactor | WBInteraction000521298 | |||||||
Genetics | Interpolated_map_position | I | -0.329391 | |||||
Description | Phenotype | WBPhenotype:0000773 | Paper_evidence | WBPaper00032450 | ||||
Curator_confirmed | WBPerson712 | |||||||
Penetrance | Incomplete | Paper_evidence | WBPaper00032450 | |||||
Curator_confirmed | WBPerson712 | |||||||
Reference | WBPaper00032450 | |||||||
WBPaper00010620 | ||||||||
Method | Substitution_allele |