WormBase Tree Display for Variation: WBVar00296804
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WBVar00296804 | Evidence | Paper_evidence | WBPaper00037647 | ||||||
---|---|---|---|---|---|---|---|---|---|
Name | Public_name | ju436 | |||||||
Other_name | K09C8.5.1:c.2215C>T | ||||||||
CE18882:p.His739Tyr | |||||||||
HGVSg | CHROMOSOME_X:g.10976248G>A | ||||||||
Sequence_details | SMap | S_parent | Sequence | K09C8 | |||||
Flanking_sequences | gtgctaattggaacagatgaaactacgccg | atagtcatttgagtgcaatgactatgcaat | |||||||
Mapping_target | K09C8 | ||||||||
Type_of_mutation | Substitution | c | t | ||||||
SeqStatus | Sequenced | ||||||||
Variation_type | Allele | ||||||||
Origin | Species | Caenorhabditis elegans | |||||||
Laboratory | CZ | ||||||||
Status | Live | ||||||||
Affects | Gene | WBGene00004257 | |||||||
Transcript | K09C8.5.1 (12) | ||||||||
Isolation | Mutagen | EMS | Paper_evidence | WBPaper00037647 | |||||
Genetics | Interpolated_map_position | X | 2.78602 | ||||||
Description | Phenotype | WBPhenotype:0000409 | Paper_evidence | WBPaper00037647 | |||||
Curator_confirmed | WBPerson10095 | ||||||||
Remark | Bent head or body is most common morphology defect, visible most prominently in early larval worms | Paper_evidence | WBPaper00037647 | ||||||
Curator_confirmed | WBPerson10095 | ||||||||
Penetrance | Incomplete | 20% | Paper_evidence | WBPaper00037647 | |||||
Curator_confirmed | WBPerson10095 | ||||||||
Recessive | Paper_evidence | WBPaper00037647 | |||||||
Curator_confirmed | WBPerson10095 | ||||||||
Variation_effect | Loss_of_function_undetermined_extent | Paper_evidence | WBPaper00037647 | ||||||
Curator_confirmed | WBPerson10095 | ||||||||
EQ_annotations | Life_stage | WBls:0000024 | PATO:0000460 | Paper_evidence | WBPaper00037647 | ||||
Curator_confirmed | WBPerson10095 | ||||||||
WBls:0000027 | PATO:0000460 | Paper_evidence | WBPaper00037647 | ||||||
Curator_confirmed | WBPerson10095 | ||||||||
WBPhenotype:0001294 | Paper_evidence | WBPaper00037647 | |||||||
Curator_confirmed | WBPerson10095 | ||||||||
Remark | Bent head or body is most common morphology defect, visible most prominently in early larval worms | Paper_evidence | WBPaper00037647 | ||||||
Curator_confirmed | WBPerson10095 | ||||||||
Penetrance | Incomplete | 20% | Paper_evidence | WBPaper00037647 | |||||
Curator_confirmed | WBPerson10095 | ||||||||
Recessive | Paper_evidence | WBPaper00037647 | |||||||
Curator_confirmed | WBPerson10095 | ||||||||
Variation_effect | Loss_of_function_undetermined_extent | Paper_evidence | WBPaper00037647 | ||||||
Curator_confirmed | WBPerson10095 | ||||||||
EQ_annotations | Life_stage | WBls:0000024 | PATO:0000460 | Paper_evidence | WBPaper00037647 | ||||
Curator_confirmed | WBPerson10095 | ||||||||
WBls:0000027 | PATO:0000460 | Paper_evidence | WBPaper00037647 | ||||||
Curator_confirmed | WBPerson10095 | ||||||||
WBPhenotype:0002342 | Paper_evidence | WBPaper00037647 | |||||||
Curator_confirmed | WBPerson10095 | ||||||||
Remark | Bent head or body is most common morphology defect, visible most prominently in early larval worms | Paper_evidence | WBPaper00037647 | ||||||
Curator_confirmed | WBPerson10095 | ||||||||
Penetrance | Incomplete | 20% | Paper_evidence | WBPaper00037647 | |||||
Curator_confirmed | WBPerson10095 | ||||||||
Recessive | Paper_evidence | WBPaper00037647 | |||||||
Curator_confirmed | WBPerson10095 | ||||||||
Variation_effect | Loss_of_function_undetermined_extent | Paper_evidence | WBPaper00037647 | ||||||
Curator_confirmed | WBPerson10095 | ||||||||
EQ_annotations | Life_stage | WBls:0000024 | PATO:0000460 | Paper_evidence | WBPaper00037647 | ||||
Curator_confirmed | WBPerson10095 | ||||||||
WBls:0000027 | PATO:0000460 | Paper_evidence | WBPaper00037647 | ||||||
Curator_confirmed | WBPerson10095 | ||||||||
WBPhenotype:0002588 | Paper_evidence | WBPaper00037647 | |||||||
Curator_confirmed | WBPerson10095 | ||||||||
Penetrance | Incomplete | 20% | Paper_evidence | WBPaper00037647 | |||||
Curator_confirmed | WBPerson10095 | ||||||||
Recessive | Paper_evidence | WBPaper00037647 | |||||||
Curator_confirmed | WBPerson10095 | ||||||||
Variation_effect | Loss_of_function_undetermined_extent | Paper_evidence | WBPaper00037647 | ||||||
Curator_confirmed | WBPerson10095 | ||||||||
EQ_annotations | Anatomy_term | WBbt:0005733 | PATO:0000460 | Paper_evidence | WBPaper00037647 | ||||
Curator_confirmed | WBPerson10095 | ||||||||
WBbt:0005813 | PATO:0000460 | Paper_evidence | WBPaper00037647 | ||||||
Curator_confirmed | WBPerson10095 | ||||||||
Life_stage | WBls:0000003 | PATO:0000460 | Paper_evidence | WBPaper00037647 | |||||
Curator_confirmed | WBPerson10095 | ||||||||
WBls:0000023 | PATO:0000460 | Paper_evidence | WBPaper00037647 | ||||||
Curator_confirmed | WBPerson10095 | ||||||||
GO_term | GO:0009790 | PATO:0000460 | Paper_evidence | WBPaper00037647 | |||||
Curator_confirmed | WBPerson10095 | ||||||||
GO:0005604 | PATO:0000460 | Paper_evidence | WBPaper00037647 | ||||||
Curator_confirmed | WBPerson10095 | ||||||||
Reference | WBPaper00037647 | ||||||||
Method | Substitution_allele |