WormBase Tree Display for Variation: WBVar00241135
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WBVar00241135 | Evidence | Paper_evidence | WBPaper00005045 | ||||||
---|---|---|---|---|---|---|---|---|---|
Name | Public_name | q493 | |||||||
Other_name | Y54E10A.4d.1:c.103T>G | ||||||||
Y54E10A.4a.1:c.1093T>G | |||||||||
Y54E10A.4a.2:c.1093T>G | |||||||||
CE27479:p.Tyr365Asp | |||||||||
CE50219:p.Tyr35Asp | |||||||||
CE50301:p.Tyr310Asp | |||||||||
CE27480:p.Tyr579Asp | |||||||||
Y54E10A.4b.1:c.1735T>G | |||||||||
Y54E10A.4c.1:c.928T>G | |||||||||
HGVSg | CHROMOSOME_I:g.3216896T>G | ||||||||
Sequence_details | SMap | S_parent | Sequence | Y54E10A | |||||
Flanking_sequences | tactgcaaagaggctccgtgtcgccagtac | actgtccatcgtgctccaacaaactccatt | |||||||
Mapping_target | Y54E10A | ||||||||
Type_of_mutation | Substitution | t | g | ||||||
SeqStatus | Sequenced | ||||||||
Variation_type | Allele | ||||||||
Origin | Species | Caenorhabditis elegans | |||||||
Laboratory | JK | ||||||||
Status | Live | ||||||||
Affects | Gene | WBGene00001481 | |||||||
Transcript | Y54E10A.4d.1 (12) | ||||||||
Y54E10A.4a.1 (12) | |||||||||
Y54E10A.4c.1 (12) | |||||||||
Y54E10A.4b.1 (12) | |||||||||
Y54E10A.4a.2 (12) | |||||||||
Isolation | Mutagen | UV/TMP | |||||||
Genetics | Interpolated_map_position | I | -4.46976 | ||||||
Description | Phenotype | WBPhenotype:0000682 | Paper_evidence | WBPaper00002112 | |||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | Haploinsufficient | Paper_evidence | WBPaper00002112 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Penetrance | High | 95 percent | Paper_evidence | WBPaper00002112 | |||||
Curator_confirmed | WBPerson2021 | ||||||||
Haplo_insufficient | Paper_evidence | WBPaper00002112 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Variation_effect | Null | Paper_evidence | WBPaper00002112 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
EQ_annotations | Life_stage | WBls:0000057 | PATO:0000460 | Paper_evidence | WBPaper00002112 | ||||
Curator_confirmed | WBPerson2021 | ||||||||
WBls:0000056 | PATO:0000460 | Paper_evidence | WBPaper00002112 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Reference | WBPaper00002112 | ||||||||
Method | Substitution_allele |