WormBase Tree Display for Variation: WBVar00241475
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WBVar00241475 | Evidence | Paper_evidence | WBPaper00005804 | |||||
---|---|---|---|---|---|---|---|---|
Name | Public_name | ra102 | ||||||
Other_name | C18A11.7b.1:c.129+1G>A | |||||||
C18A11.7a.1:c.1077+1G>A | ||||||||
HGVSg | CHROMOSOME_X:g.8052549C>T | |||||||
Sequence_details | SMap | S_parent | Sequence | C18A11 | ||||
Flanking_sequences | accccacaagtgaagtggtattacgataac | tgagtgacgctagcatcctacaatattaag | ||||||
Mapping_target | C18A11 | |||||||
Type_of_mutation | Substitution | g | a | |||||
SeqStatus | Sequenced | |||||||
Variation_type | Allele | |||||||
Origin | Species | Caenorhabditis elegans | ||||||
Strain | WBStrain00005864 | |||||||
Laboratory | DM | |||||||
Status | Live | |||||||
Affects | Gene | WBGene00001000 | ||||||
Transcript | C18A11.7a.1 | VEP_consequence | splice_donor_variant | |||||
VEP_impact | HIGH | |||||||
HGVSc | C18A11.7a.1:c.1077+1G>A | |||||||
Intron_number | 8/13 | |||||||
C18A11.7b.1 | VEP_consequence | splice_donor_variant | ||||||
VEP_impact | HIGH | |||||||
HGVSc | C18A11.7b.1:c.129+1G>A | |||||||
Intron_number | 2/7 | |||||||
Interactor (19) | ||||||||
Genetics | Interpolated_map_position | X | -0.649275 | |||||
Description | Phenotype | WBPhenotype:0000553 | Paper_evidence | WBPaper00005804 | ||||
Curator_confirmed | WBPerson528 | |||||||
WBPhenotype:0001889 | Paper_evidence | WBPaper00040652 | ||||||
Curator_confirmed | WBPerson712 | |||||||
Remark | Attachment complexes are disorganised (e.g. not nicely arrayed Z and M lines) in dim-1 mutants. | Paper_evidence | WBPaper00040652 | |||||
Curator_confirmed | WBPerson712 | |||||||
Recessive | Paper_evidence | WBPaper00040652 | ||||||
Curator_confirmed | WBPerson712 | |||||||
Temperature_sensitive | Heat_sensitive | 25 | Paper_evidence | WBPaper00040652 | ||||
Curator_confirmed | WBPerson712 | |||||||
Phenotype_not_observed | WBPhenotype:0000059 | Paper_evidence | WBPaper00005804 | |||||
Curator_confirmed | WBPerson528 | |||||||
Reference | WBPaper00040652 | |||||||
WBPaper00005804 | ||||||||
Method | Substitution_allele |