WormBase Tree Display for Variation: WBVar00090456
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WBVar00090456 | Evidence | Paper_evidence | WBPaper00003576 | |||||
---|---|---|---|---|---|---|---|---|
Name | Public_name | n2392 | ||||||
Other_name | T21C12.1f.1:c.480-1G>A | |||||||
T21C12.1k.1:c.480-1G>A | ||||||||
T21C12.1b.1:c.480-1G>A | ||||||||
T21C12.1e.1:c.480-1G>A | ||||||||
T21C12.1c.1:c.480-1G>A | ||||||||
T21C12.1d.1:c.480-1G>A | ||||||||
T21C12.1j.1:c.480-1G>A | ||||||||
T21C12.1c.2:c.480-1G>A | ||||||||
HGVSg | CHROMOSOME_III:g.10524242G>A | |||||||
Sequence_details | SMap | S_parent | Sequence | T21C12 | ||||
Flanking_sequences | ttctcggccaaatcaaacctaaatattcca | attaacagtcactgcaacgtgtccaatgga | ||||||
Mapping_target | T21C12 | |||||||
Type_of_mutation | Substitution | g | a | Paper_evidence | WBPaper00003576 | |||
SeqStatus | Sequenced | |||||||
Variation_type | Allele | |||||||
Origin | Species | Caenorhabditis elegans | ||||||
Laboratory | MT | |||||||
Status | Live | |||||||
Affects | Gene | WBGene00006784 | ||||||
Transcript | T21C12.1k.1 | VEP_consequence | splice_acceptor_variant | |||||
VEP_impact | HIGH | |||||||
HGVSc | T21C12.1k.1:c.480-1G>A | |||||||
Intron_number | 4/11 | |||||||
T21C12.1c.1 | VEP_consequence | splice_acceptor_variant | ||||||
VEP_impact | HIGH | |||||||
HGVSc | T21C12.1c.1:c.480-1G>A | |||||||
Intron_number | 5/18 | |||||||
T21C12.1e.1 | VEP_consequence | splice_acceptor_variant | ||||||
VEP_impact | HIGH | |||||||
HGVSc | T21C12.1e.1:c.480-1G>A | |||||||
Intron_number | 5/19 | |||||||
T21C12.1c.2 | VEP_consequence | splice_acceptor_variant | ||||||
VEP_impact | HIGH | |||||||
HGVSc | T21C12.1c.2:c.480-1G>A | |||||||
Intron_number | 5/14 | |||||||
T21C12.1b.1 | VEP_consequence | splice_acceptor_variant | ||||||
VEP_impact | HIGH | |||||||
HGVSc | T21C12.1b.1:c.480-1G>A | |||||||
Intron_number | 5/14 | |||||||
T21C12.1j.1 | VEP_consequence | splice_acceptor_variant | ||||||
VEP_impact | HIGH | |||||||
HGVSc | T21C12.1j.1:c.480-1G>A | |||||||
Intron_number | 4/5 | |||||||
T21C12.1d.1 | VEP_consequence | splice_acceptor_variant | ||||||
VEP_impact | HIGH | |||||||
HGVSc | T21C12.1d.1:c.480-1G>A | |||||||
Intron_number | 5/17 | |||||||
T21C12.1f.1 | VEP_consequence | splice_acceptor_variant | ||||||
VEP_impact | HIGH | |||||||
HGVSc | T21C12.1f.1:c.480-1G>A | |||||||
Intron_number | 5/11 | |||||||
Isolation | Mutagen | EMS | ||||||
Genetics | Interpolated_map_position | III | 3.29897 | |||||
Description | Phenotype | WBPhenotype:0000563 | Person_evidence | WBPerson39 | ||||
Curator_confirmed | WBPerson48 | |||||||
Penetrance | Complete | Person_evidence | WBPerson39 | |||||
Curator_confirmed | WBPerson48 | |||||||
Recessive | Person_evidence | WBPerson39 | ||||||
Curator_confirmed | WBPerson48 | |||||||
Variation_effect | Null | Person_evidence | WBPerson39 | |||||
Curator_confirmed | WBPerson48 | |||||||
Reference | WBPaper00003576 | |||||||
Method | Substitution_allele |