WormBase Tree Display for Variation: WBVar00145227
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WBVar00145227 | Evidence | Paper_evidence | WBPaper00001105 | ||||||
---|---|---|---|---|---|---|---|---|---|
Name | Public_name | ev424 | |||||||
Other_name | C01G10.11c.1:c.59_60dup | ||||||||
CE39211:p.Asp112SerfsTer21 | |||||||||
CE39210:p.Asp112SerfsTer21 | |||||||||
C01G10.11f.1:c.332_333dup | |||||||||
CE45264:p.Asp21SerfsTer21 | |||||||||
C01G10.11b.1:c.332_333dup | |||||||||
C01G10.11a.1:c.332_333dup | |||||||||
CE45243:p.Asp112SerfsTer21 | |||||||||
HGVSg | CHROMOSOME_V:g.15074825_15074826dup | ||||||||
Sequence_details | SMap | S_parent | Sequence | C01G10 | |||||
Flanking_sequences | accggaaactttggaaacattcaacctctc | gactttggaacctcttcgatatgtaaaaag | |||||||
Mapping_target | C01G10 | ||||||||
Type_of_mutation | Insertion | tc | Paper_evidence | WBPaper00002751 | |||||
SeqStatus | Sequenced | ||||||||
Variation_type | Allele | ||||||||
Origin | Species | Caenorhabditis elegans | |||||||
Strain | WBStrain00029116 | ||||||||
Laboratory | NW | ||||||||
Status | Live | ||||||||
Affects | Gene | WBGene00305248 | |||||||
WBGene00006808 | |||||||||
WBGene00305285 | |||||||||
WBGene00305247 | |||||||||
Transcript | C01G10.21 | ||||||||
C01G10.11f.1 | VEP_consequence | frameshift_variant | |||||||
VEP_impact | HIGH | ||||||||
HGVSc | C01G10.11f.1:c.332_333dup | ||||||||
HGVSp | CE45243:p.Asp112SerfsTer21 | ||||||||
cDNA_position | 457-458 | ||||||||
CDS_position | 333-334 | ||||||||
Protein_position | 111-112 | ||||||||
Exon_number | 5/12 | ||||||||
Codon_change | -/TC | ||||||||
Amino_acid_change | -/X | ||||||||
C01G10.11b.1 | VEP_consequence | frameshift_variant | |||||||
VEP_impact | HIGH | ||||||||
HGVSc | C01G10.11b.1:c.332_333dup | ||||||||
HGVSp | CE39211:p.Asp112SerfsTer21 | ||||||||
cDNA_position | 344-345 | ||||||||
CDS_position | 333-334 | ||||||||
Protein_position | 111-112 | ||||||||
Exon_number | 5/10 | ||||||||
Codon_change | -/TC | ||||||||
Amino_acid_change | -/X | ||||||||
C01G10.11a.1 | VEP_consequence | frameshift_variant | |||||||
VEP_impact | HIGH | ||||||||
HGVSc | C01G10.11a.1:c.332_333dup | ||||||||
HGVSp | CE39210:p.Asp112SerfsTer21 | ||||||||
cDNA_position | 341-342 | ||||||||
CDS_position | 333-334 | ||||||||
Protein_position | 111-112 | ||||||||
Exon_number | 5/11 | ||||||||
Codon_change | -/TC | ||||||||
Amino_acid_change | -/X | ||||||||
C25D7.19 | |||||||||
C01G10.20 | |||||||||
C01G10.11c.1 | VEP_consequence | frameshift_variant | |||||||
VEP_impact | HIGH | ||||||||
HGVSc | C01G10.11c.1:c.59_60dup | ||||||||
HGVSp | CE45264:p.Asp21SerfsTer21 | ||||||||
cDNA_position | 60-61 | ||||||||
CDS_position | 60-61 | ||||||||
Protein_position | 20-21 | ||||||||
Exon_number | 2/7 | ||||||||
Codon_change | -/TC | ||||||||
Amino_acid_change | -/X | ||||||||
Genetics | Interpolated_map_position | V | 7.31636 | ||||||
Description | Phenotype | WBPhenotype:0000181 | Paper_evidence | WBPaper00001105 | |||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | HSN axons are posteriorly misdirected and never reach the nerve ring | Paper_evidence | WBPaper00001105 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Penetrance | Low | Paper_evidence | WBPaper00001105 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Range | 1 | 1 | Paper_evidence | WBPaper00001105 | |||||
Curator_confirmed | WBPerson2021 | ||||||||
EQ_annotations | Anatomy_term | WBbt:0006830 | PATO:0000460 | Paper_evidence | WBPaper00001105 | ||||
Curator_confirmed | WBPerson2021 | ||||||||
Life_stage | WBls:0000057 | PATO:0000460 | Paper_evidence | WBPaper00001105 | |||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPhenotype:0000643 | Paper_evidence | WBPaper00001105 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPhenotype:0001224 | Paper_evidence | WBPaper00001105 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | HSN axons show ventral blocks (failure to extend ventrally from their cell bodies to the ventral cord) and anterior blocks (axons enter the ventral cord normally but fail to complete the anterior growth towards the nerve ring) | Paper_evidence | WBPaper00001105 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Penetrance | Incomplete | 7 percent of mutants have ventral blocks and 92 percent have anterior blocks | Paper_evidence | WBPaper00001105 | |||||
Curator_confirmed | WBPerson2021 | ||||||||
EQ_annotations | Anatomy_term | WBbt:0006830 | PATO:0000460 | Paper_evidence | WBPaper00001105 | ||||
Curator_confirmed | WBPerson2021 | ||||||||
Life_stage | WBls:0000057 | PATO:0000460 | Paper_evidence | WBPaper00001105 | |||||
Curator_confirmed | WBPerson2021 | ||||||||
Reference | WBPaper00001105 | ||||||||
WBPaper00002751 | |||||||||
Method | Insertion_allele |