WormBase Tree Display for Variation: WBVar00094803
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WBVar00094803 | Evidence | Paper_evidence | WBPaper00027031 | ||||||
---|---|---|---|---|---|---|---|---|---|
Name | Public_name | ot65 | |||||||
Other_name | F49H12.1a.1:c.283C>T | ||||||||
CE38521:p.Gln69Ter | |||||||||
F49H12.1b.1:c.205C>T | |||||||||
CE28437:p.Gln95Ter | |||||||||
HGVSg | CHROMOSOME_X:g.2090363C>T | ||||||||
Sequence_details | SMap | S_parent | Sequence | F49H12 | |||||
Flanking_sequences | ctaactctgattttgttttcaggtctccag | agcatgcagtgatacacacagatcagaagc | |||||||
Mapping_target | F49H12 | ||||||||
Type_of_mutation | Substitution | c | t | Paper_evidence | WBPaper00027031 | ||||
SeqStatus | Sequenced | ||||||||
Variation_type | Allele | ||||||||
Origin | Species | Caenorhabditis elegans | |||||||
Laboratory | OH | ||||||||
Status | Live | ||||||||
Affects | Gene | WBGene00003087 | |||||||
Transcript | F49H12.1b.1 | VEP_consequence | stop_gained | ||||||
VEP_impact | HIGH | ||||||||
HGVSc | F49H12.1b.1:c.205C>T | ||||||||
HGVSp | CE38521:p.Gln69Ter | ||||||||
cDNA_position | 256 | ||||||||
CDS_position | 205 | ||||||||
Protein_position | 69 | ||||||||
Exon_number | 4/11 | ||||||||
Codon_change | Cag/Tag | ||||||||
Amino_acid_change | Q/* | ||||||||
F49H12.1a.1 | VEP_consequence | stop_gained | |||||||
VEP_impact | HIGH | ||||||||
HGVSc | F49H12.1a.1:c.283C>T | ||||||||
HGVSp | CE28437:p.Gln95Ter | ||||||||
cDNA_position | 379 | ||||||||
CDS_position | 283 | ||||||||
Protein_position | 95 | ||||||||
Exon_number | 5/12 | ||||||||
Codon_change | Cag/Tag | ||||||||
Amino_acid_change | Q/* | ||||||||
Genetics | Interpolated_map_position | X | -17.0553 | ||||||
Description | Phenotype | WBPhenotype:0000688 | Paper_evidence | WBPaper00030973 | |||||
Curator_confirmed | WBPerson2021 | ||||||||
Recessive | Paper_evidence | WBPaper00030973 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
EQ_annotations | Life_stage | WBls:0000041 | PATO:0000460 | Paper_evidence | WBPaper00030973 | ||||
Curator_confirmed | WBPerson2021 | ||||||||
Phenotype_assay | Temperature | 25C | Paper_evidence | WBPaper00030973 | |||||
Curator_confirmed | WBPerson2021 | ||||||||
Genotype | otIs3 [gcy-7p::GFP], ntIs1 [ gcy-5p::GFP] | Paper_evidence | WBPaper00030973 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPhenotype:0001660 | Paper_evidence | WBPaper00030973 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | ASE asymmetry is disrupted. 2 ASER | Paper_evidence | WBPaper00030973 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Penetrance | High | Paper_evidence | WBPaper00030973 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Range | 95 | 97 | Paper_evidence | WBPaper00030973 | |||||
Curator_confirmed | WBPerson2021 | ||||||||
Recessive | Paper_evidence | WBPaper00030973 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
EQ_annotations | Anatomy_term | WBbt:0005663 | PATO:0000460 | Paper_evidence | WBPaper00030973 | ||||
Curator_confirmed | WBPerson2021 | ||||||||
Phenotype_assay | Temperature | 25C | Paper_evidence | WBPaper00030973 | |||||
Curator_confirmed | WBPerson2021 | ||||||||
Genotype | otIs3 [gcy-7p::GFP], ntIs1 [ gcy-5p::GFP] | Paper_evidence | WBPaper00030973 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Reference | WBPaper00030973 | ||||||||
Method | Substitution_allele |