WormBase Tree Display for Variation: WBVar00143380
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WBVar00143380 | Evidence | Paper_evidence | WBPaper00005631 | |||||
---|---|---|---|---|---|---|---|---|
Name (3) | ||||||||
Sequence_details | SMap | S_parent | Sequence | F56A11 | ||||
Flanking_sequences | gaatgggagacgttgttcgatttgtgtgtc | ggacaatgaggagggacgaaacgatggcga | ||||||
Mapping_target | F56A11 | |||||||
Type_of_mutation | Substitution | c | t | Paper_evidence | WBPaper00005631 | |||
SeqStatus | Sequenced | |||||||
Variation_type | Allele | |||||||
Origin | Species | Caenorhabditis elegans | ||||||
Laboratory | CB | |||||||
Status | Live | |||||||
Affects | Gene | WBGene00001165 | ||||||
Transcript | F56A11.3.1 | VEP_consequence | missense_variant | |||||
VEP_impact | MODERATE | |||||||
SIFT | 0 | deleterious | ||||||
PolyPhen | 0.999 | probably_damaging | ||||||
HGVSc | F56A11.3.1:c.161C>T | |||||||
HGVSp | CE29503:p.Pro54Leu | |||||||
cDNA_position | 165 | |||||||
CDS_position | 161 | |||||||
Protein_position | 54 | |||||||
Exon_number | 3/6 | |||||||
Codon_change | cCg/cTg | |||||||
Amino_acid_change | P/L | |||||||
Genetics | Interpolated_map_position | IV | -25.6324 | |||||
Description | Phenotype | WBPhenotype:0000059 | Paper_evidence | WBPaper00005631 | ||||
Curator_confirmed | WBPerson557 | |||||||
Penetrance | Low | 5.2 percent | Paper_evidence | WBPaper00005631 | ||||
Curator_confirmed | WBPerson557 | |||||||
Recessive (2) | ||||||||
Variation_effect | Loss_of_function_undetermined_extent | Paper_evidence | WBPaper00005631 | |||||
Curator_confirmed | WBPerson557 | |||||||
WBPhenotype:0000409 | Paper_evidence | WBPaper00005631 | ||||||
Curator_confirmed | WBPerson557 | |||||||
Penetrance | Low | 21.4 percent | Paper_evidence | WBPaper00005631 | ||||
Curator_confirmed | WBPerson557 | |||||||
Recessive (2) | ||||||||
Variation_effect | Loss_of_function_undetermined_extent | Paper_evidence | WBPaper00005631 | |||||
Curator_confirmed | WBPerson557 | |||||||
WBPhenotype:0000867 | Paper_evidence | WBPaper00005631 | ||||||
Curator_confirmed | WBPerson557 | |||||||
Penetrance | Low | 7.0 percent | Paper_evidence | WBPaper00005631 | ||||
Curator_confirmed | WBPerson557 | |||||||
Recessive (2) | ||||||||
Variation_effect | Loss_of_function_undetermined_extent | Paper_evidence | WBPaper00005631 | |||||
Curator_confirmed | WBPerson557 | |||||||
Reference | WBPaper00005631 | |||||||
Method | Substitution_allele |