WormBase Tree Display for Variation: WBVar00248981
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WBVar00248981 | Name | Public_name | sy422 | |||||
---|---|---|---|---|---|---|---|---|
Other_name | C09E10.2b.1:c.551G>A | |||||||
CE38268:p.Cys184Tyr | ||||||||
CE08038:p.Cys184Tyr | ||||||||
C09E10.2a.1:c.551G>A | ||||||||
CE08039:p.Cys184Tyr | ||||||||
C09E10.2d.1:c.551G>A | ||||||||
C09E10.2c.1:c.551G>A | ||||||||
C09E10.2e.1:c.551G>A | ||||||||
CE38270:p.Cys184Tyr | ||||||||
CE38269:p.Cys184Tyr | ||||||||
HGVSg | CHROMOSOME_X:g.989696C>T | |||||||
Sequence_details | SMap | S_parent | Sequence | C09E10 | ||||
Flanking_sequences | aatgccttgccggaatgcgatgtgaatggt | tggtcagacggttagtttcagtcttacttc | ||||||
Mapping_target | C09E10 | |||||||
Type_of_mutation | Substitution | g | a | Paper_evidence | WBPaper00024616 | |||
SeqStatus | Sequenced | |||||||
Variation_type | Allele | |||||||
Origin | Species | Caenorhabditis elegans | ||||||
Strain | WBStrain00047128 | |||||||
Laboratory | PS | |||||||
Status | Live | |||||||
Affects | Gene | WBGene00000958 | ||||||
Transcript | C09E10.2d.1 | VEP_consequence | missense_variant | |||||
VEP_impact | MODERATE | |||||||
SIFT | 0 | deleterious | ||||||
PolyPhen | 0 | unknown | ||||||
HGVSc | C09E10.2d.1:c.551G>A | |||||||
HGVSp | CE38269:p.Cys184Tyr | |||||||
cDNA_position | 551 | |||||||
CDS_position | 551 | |||||||
Protein_position | 184 | |||||||
Exon_number | 4/14 | |||||||
Codon_change | tGt/tAt | |||||||
Amino_acid_change | C/Y | |||||||
C09E10.2c.1 | VEP_consequence | missense_variant | ||||||
VEP_impact | MODERATE | |||||||
SIFT | 0 | deleterious | ||||||
PolyPhen | 0.998 | probably_damaging | ||||||
HGVSc | C09E10.2c.1:c.551G>A | |||||||
HGVSp | CE38268:p.Cys184Tyr | |||||||
cDNA_position | 551 | |||||||
CDS_position | 551 | |||||||
Protein_position | 184 | |||||||
Exon_number | 4/14 | |||||||
Codon_change | tGt/tAt | |||||||
Amino_acid_change | C/Y | |||||||
C09E10.2a.1 | VEP_consequence | missense_variant | ||||||
VEP_impact | MODERATE | |||||||
SIFT | 0 | deleterious | ||||||
PolyPhen | 1 | probably_damaging | ||||||
HGVSc | C09E10.2a.1:c.551G>A | |||||||
HGVSp | CE08038:p.Cys184Tyr | |||||||
cDNA_position | 694 | |||||||
CDS_position | 551 | |||||||
Protein_position | 184 | |||||||
Exon_number | 5/18 | |||||||
Codon_change | tGt/tAt | |||||||
Amino_acid_change | C/Y | |||||||
C09E10.2e.1 | VEP_consequence | missense_variant | ||||||
VEP_impact | MODERATE | |||||||
SIFT | 0 | deleterious | ||||||
PolyPhen | 1 | probably_damaging | ||||||
HGVSc | C09E10.2e.1:c.551G>A | |||||||
HGVSp | CE38270:p.Cys184Tyr | |||||||
cDNA_position | 551 | |||||||
CDS_position | 551 | |||||||
Protein_position | 184 | |||||||
Exon_number | 4/15 | |||||||
Codon_change | tGt/tAt | |||||||
Amino_acid_change | C/Y | |||||||
C09E10.2b.1 | VEP_consequence | missense_variant | ||||||
VEP_impact | MODERATE | |||||||
SIFT | 0 | deleterious | ||||||
PolyPhen | 1 | probably_damaging | ||||||
HGVSc | C09E10.2b.1:c.551G>A | |||||||
HGVSp | CE08039:p.Cys184Tyr | |||||||
cDNA_position | 694 | |||||||
CDS_position | 551 | |||||||
Protein_position | 184 | |||||||
Exon_number | 5/18 | |||||||
Codon_change | tGt/tAt | |||||||
Amino_acid_change | C/Y | |||||||
Genetics | Interpolated_map_position | X | -18.8693 | |||||
Description | Phenotype | WBPhenotype:0000649 | Paper_evidence | WBPaper00053312 | ||||
Curator_confirmed | WBPerson712 | |||||||
Phenotype_assay | Genotype | PS2012 | Paper_evidence | WBPaper00053312 | ||||
Curator_confirmed | WBPerson712 | |||||||
Reference | WBPaper00053312 | |||||||
Method | Substitution_allele |