WormBase Tree Display for Variation: WBVar00000010
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WBVar00000010 | Evidence | Paper_evidence | WBPaper00006439 | ||||||
---|---|---|---|---|---|---|---|---|---|
Name | Public_name | ad453 | |||||||
Other_name | Y48B6A.4.1:c.883C>T | ||||||||
CE22119:p.Pro295Ser | |||||||||
HGVSg | CHROMOSOME_II:g.14169090G>A | ||||||||
Sequence_details | SMap | S_parent | Sequence | Y48B6A | |||||
Flanking_sequences | gaagtggctccgcccacttctgagtcaatt | ccataatcgccgcgtttttctccttatcta | |||||||
Mapping_target | Y48B6A | ||||||||
Type_of_mutation | Substitution | c | t | ||||||
SeqStatus | Sequenced | ||||||||
Variation_type | Allele | ||||||||
Origin | Species | Caenorhabditis elegans | |||||||
Strain | WBStrain00005461 | ||||||||
Laboratory | DA | ||||||||
Status | Live | ||||||||
Affects | Gene | WBGene00001133 | |||||||
Transcript | Y48B6A.4.1 | VEP_consequence | missense_variant | ||||||
VEP_impact | MODERATE | ||||||||
HGVSc | Y48B6A.4.1:c.883C>T | ||||||||
HGVSp | CE22119:p.Pro295Ser | ||||||||
cDNA_position | 1057 | ||||||||
CDS_position | 883 | ||||||||
Protein_position | 295 | ||||||||
Exon_number | 5/8 | ||||||||
Codon_change | Ccc/Tcc | ||||||||
Amino_acid_change | P/S | ||||||||
Genetics | Interpolated_map_position | II | 22.4738 | ||||||
Description | Phenotype | WBPhenotype:0000634 | Paper_evidence | WBPaper00001709 | |||||
Curator_confirmed | WBPerson2021 | ||||||||
EQ_annotations | Anatomy_term | WBbt:0003681 | PATO:0000460 | Paper_evidence | WBPaper00001709 | ||||
Curator_confirmed | WBPerson2021 | ||||||||
Phenotype_not_observed | WBPhenotype:0000681 | Paper_evidence | WBPaper00027611 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | Scored as DMPP sensitive. | Paper_evidence | WBPaper00027611 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Affected_by | Molecule | WBMol:00000896 | Paper_evidence | WBPaper00027611 | |||||
Curator_confirmed | WBPerson712 | ||||||||
Reference | WBPaper00027611 | ||||||||
WBPaper00001709 | |||||||||
WBPaper00022005 | |||||||||
Method | Substitution_allele |