WormBase Tree Display for Variation: WBVar00143236
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WBVar00143236 | Evidence | Paper_evidence | WBPaper00003576 | |||||
---|---|---|---|---|---|---|---|---|
Name | Public_name | e468 | ||||||
Other_name (13) | ||||||||
HGVSg | CHROMOSOME_III:g.10527973G>A | |||||||
Sequence_details | SMap | S_parent | Sequence | T21C12 | ||||
Flanking_sequences | ttgagaacggagacaccgattttgcagacg | gtacgagacgaaagatatcgactactattg | ||||||
Mapping_target | T21C12 | |||||||
Type_of_mutation | Substitution | g | a | Paper_evidence | WBPaper00003576 | |||
SeqStatus | Sequenced | |||||||
Variation_type | Allele | |||||||
Origin | Species | Caenorhabditis elegans | ||||||
Laboratory | CB | |||||||
Status | Live | |||||||
Affects | Gene | WBGene00006784 | ||||||
Transcript | T21C12.1k.1 (12) | |||||||
T21C12.1m.1 (12) | ||||||||
T21C12.1c.1 (12) | ||||||||
T21C12.1e.1 (12) | ||||||||
T21C12.1c.2 (12) | ||||||||
T21C12.1o.1 | VEP_consequence | intron_variant | ||||||
VEP_impact | MODIFIER | |||||||
HGVSc | T21C12.1o.1:c.59-2613G>A | |||||||
Intron_number | 1/5 | |||||||
T21C12.1d.1 (12) | ||||||||
T21C12.1f.1 | VEP_consequence | intron_variant | ||||||
VEP_impact | MODIFIER | |||||||
HGVSc | T21C12.1f.1:c.563-2613G>A | |||||||
Intron_number | 6/11 | |||||||
Genetics | Interpolated_map_position | III | 3.36713 | |||||
Mapping_data | In_2_point | 86 | ||||||
Description | Phenotype | WBPhenotype:0000563 | Paper_evidence | WBPaper00003576 | ||||
Curator_confirmed | WBPerson48 | |||||||
Penetrance | Complete | Paper_evidence | WBPaper00003576 | |||||
Curator_confirmed | WBPerson48 | |||||||
Recessive | Paper_evidence | WBPaper00003576 | ||||||
Curator_confirmed | WBPerson48 | |||||||
Variation_effect | Null | Paper_evidence | WBPaper00003576 | |||||
Curator_confirmed | WBPerson48 | |||||||
Reference | WBPaper00003576 | |||||||
Remark | affects UNC-49B only | |||||||
Method | Substitution_allele |