WormBase Tree Display for Variation: WBVar00143236
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WBVar00143236 | Evidence | Paper_evidence | WBPaper00003576 | |||||
---|---|---|---|---|---|---|---|---|
Name | Public_name | e468 | ||||||
Other_name | T21C12.1d.1:c.566G>A | |||||||
T21C12.1m.1:c.62G>A | ||||||||
CE28084:p.Gly189Glu | ||||||||
T21C12.1o.1:c.59-2613G>A | ||||||||
T21C12.1f.1:c.563-2613G>A | ||||||||
CE28085:p.Gly189Glu | ||||||||
CE28083:p.Gly189Glu | ||||||||
T21C12.1c.1:c.566G>A | ||||||||
CE48728:p.Gly21Glu | ||||||||
T21C12.1k.1:c.566G>A | ||||||||
T21C12.1c.2:c.566G>A | ||||||||
CE49075:p.Gly189Glu | ||||||||
T21C12.1e.1:c.566G>A | ||||||||
HGVSg | CHROMOSOME_III:g.10527973G>A | |||||||
Sequence_details | SMap | S_parent | Sequence | T21C12 | ||||
Flanking_sequences | ttgagaacggagacaccgattttgcagacg | gtacgagacgaaagatatcgactactattg | ||||||
Mapping_target | T21C12 | |||||||
Type_of_mutation | Substitution | g | a | Paper_evidence | WBPaper00003576 | |||
SeqStatus | Sequenced | |||||||
Variation_type | Allele | |||||||
Origin | Species | Caenorhabditis elegans | ||||||
Laboratory | CB | |||||||
Status | Live | |||||||
Affects | Gene | WBGene00006784 | ||||||
Transcript | T21C12.1k.1 | VEP_consequence | missense_variant | |||||
VEP_impact | MODERATE | |||||||
SIFT | 0 | deleterious | ||||||
PolyPhen | 1 | probably_damaging | ||||||
HGVSc | T21C12.1k.1:c.566G>A | |||||||
HGVSp | CE49075:p.Gly189Glu | |||||||
cDNA_position | 566 | |||||||
CDS_position | 566 | |||||||
Protein_position | 189 | |||||||
Exon_number | 6/12 | |||||||
Codon_change | gGg/gAg | |||||||
Amino_acid_change | G/E | |||||||
T21C12.1m.1 | VEP_consequence | missense_variant | ||||||
VEP_impact | MODERATE | |||||||
SIFT | 0 | deleterious | ||||||
PolyPhen | 1 | probably_damaging | ||||||
HGVSc | T21C12.1m.1:c.62G>A | |||||||
HGVSp | CE48728:p.Gly21Glu | |||||||
cDNA_position | 62 | |||||||
CDS_position | 62 | |||||||
Protein_position | 21 | |||||||
Exon_number | 2/9 | |||||||
Codon_change | gGg/gAg | |||||||
Amino_acid_change | G/E | |||||||
T21C12.1c.1 | VEP_consequence | missense_variant | ||||||
VEP_impact | MODERATE | |||||||
SIFT | 0 | deleterious | ||||||
PolyPhen | 0.999 | probably_damaging | ||||||
HGVSc | T21C12.1c.1:c.566G>A | |||||||
HGVSp | CE28083:p.Gly189Glu | |||||||
cDNA_position | 772 | |||||||
CDS_position | 566 | |||||||
Protein_position | 189 | |||||||
Exon_number | 7/19 | |||||||
Codon_change | gGg/gAg | |||||||
Amino_acid_change | G/E | |||||||
T21C12.1e.1 | VEP_consequence | missense_variant | ||||||
VEP_impact | MODERATE | |||||||
SIFT | 0 | deleterious | ||||||
PolyPhen | 0.999 | probably_damaging | ||||||
HGVSc | T21C12.1e.1:c.566G>A | |||||||
HGVSp | CE28085:p.Gly189Glu | |||||||
cDNA_position | 691 | |||||||
CDS_position | 566 | |||||||
Protein_position | 189 | |||||||
Exon_number | 7/20 | |||||||
Codon_change | gGg/gAg | |||||||
Amino_acid_change | G/E | |||||||
T21C12.1c.2 | VEP_consequence | missense_variant | ||||||
VEP_impact | MODERATE | |||||||
SIFT | 0 | deleterious | ||||||
PolyPhen | 0.999 | probably_damaging | ||||||
HGVSc | T21C12.1c.2:c.566G>A | |||||||
HGVSp | CE28083:p.Gly189Glu | |||||||
cDNA_position | 691 | |||||||
CDS_position | 566 | |||||||
Protein_position | 189 | |||||||
Exon_number | 7/15 | |||||||
Codon_change | gGg/gAg | |||||||
Amino_acid_change | G/E | |||||||
T21C12.1o.1 | VEP_consequence | intron_variant | ||||||
VEP_impact | MODIFIER | |||||||
HGVSc | T21C12.1o.1:c.59-2613G>A | |||||||
Intron_number | 1/5 | |||||||
T21C12.1d.1 | VEP_consequence | missense_variant | ||||||
VEP_impact | MODERATE | |||||||
SIFT | 0 | deleterious | ||||||
PolyPhen | 0.999 | probably_damaging | ||||||
HGVSc | T21C12.1d.1:c.566G>A | |||||||
HGVSp | CE28084:p.Gly189Glu | |||||||
cDNA_position | 772 | |||||||
CDS_position | 566 | |||||||
Protein_position | 189 | |||||||
Exon_number | 7/18 | |||||||
Codon_change | gGg/gAg | |||||||
Amino_acid_change | G/E | |||||||
T21C12.1f.1 | VEP_consequence | intron_variant | ||||||
VEP_impact | MODIFIER | |||||||
HGVSc | T21C12.1f.1:c.563-2613G>A | |||||||
Intron_number | 6/11 | |||||||
Genetics | Interpolated_map_position | III | 3.36713 | |||||
Mapping_data | In_2_point | 86 | ||||||
Description | Phenotype | WBPhenotype:0000563 | Paper_evidence | WBPaper00003576 | ||||
Curator_confirmed | WBPerson48 | |||||||
Penetrance | Complete | Paper_evidence | WBPaper00003576 | |||||
Curator_confirmed | WBPerson48 | |||||||
Recessive | Paper_evidence | WBPaper00003576 | ||||||
Curator_confirmed | WBPerson48 | |||||||
Variation_effect | Null | Paper_evidence | WBPaper00003576 | |||||
Curator_confirmed | WBPerson48 | |||||||
Reference | WBPaper00003576 | |||||||
Remark | affects UNC-49B only | |||||||
Method | Substitution_allele |