WormBase Tree Display for Variation: WBVar00088052
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WBVar00088052 | Evidence | Paper_evidence | WBPaper00028472 | ||||||
---|---|---|---|---|---|---|---|---|---|
Name | Public_name | it150 | |||||||
Other_name | F57B9.2d.1:c.2692-1G>A | ||||||||
F57B9.2c.1:c.4069-1G>A | |||||||||
F57B9.2b.1:c.4939-1G>A | |||||||||
F57B9.2a.1:c.4990-1G>A | |||||||||
HGVSg | CHROMOSOME_III:g.6955045G>A | ||||||||
Sequence_details | SMap | S_parent | Sequence | F57B9 | |||||
Flanking_sequences | taaacatcatcgtaagttaacttattttca | atgcgtgcgatgaccgctggaatggctatg | |||||||
Mapping_target | F57B9 | ||||||||
Type_of_mutation | Substitution | g | a | Paper_evidence | WBPaper00028472 | ||||
SeqStatus | Sequenced | ||||||||
Variation_type | Allele | ||||||||
Origin | Species | Caenorhabditis elegans | |||||||
Strain | WBStrain00033369 | ||||||||
Laboratory | KK | ||||||||
Status | Live | ||||||||
Affects | Gene | WBGene00002845 | |||||||
Transcript | F57B9.2c.1 | VEP_consequence | splice_acceptor_variant | ||||||
VEP_impact | HIGH | ||||||||
HGVSc | F57B9.2c.1:c.4069-1G>A | ||||||||
Intron_number | 8/11 | ||||||||
F57B9.2a.1 | VEP_consequence | splice_acceptor_variant | |||||||
VEP_impact | HIGH | ||||||||
HGVSc | F57B9.2a.1:c.4990-1G>A | ||||||||
Intron_number | 15/19 | ||||||||
F57B9.2d.1 | VEP_consequence | splice_acceptor_variant | |||||||
VEP_impact | HIGH | ||||||||
HGVSc | F57B9.2d.1:c.2692-1G>A | ||||||||
Intron_number | 4/8 | ||||||||
F57B9.2b.1 | VEP_consequence | splice_acceptor_variant | |||||||
VEP_impact | HIGH | ||||||||
HGVSc | F57B9.2b.1:c.4939-1G>A | ||||||||
Intron_number | 14/17 | ||||||||
Genetics | Interpolated_map_position | III | -0.874766 | ||||||
Description | Phenotype | WBPhenotype:0000052 | Paper_evidence | WBPaper00028472 | |||||
Curator_confirmed | WBPerson48 | ||||||||
Penetrance | High | penetrance at 15 deg is from 47-72 | Paper_evidence | WBPaper00028472 | |||||
Curator_confirmed | WBPerson48 | ||||||||
Range | 72 | 90 | Paper_evidence | WBPaper00028472 | |||||
Curator_confirmed | WBPerson48 | ||||||||
Recessive | Paper_evidence | WBPaper00028472 | |||||||
Curator_confirmed | WBPerson48 | ||||||||
Temperature_sensitive | Heat_sensitive | Paper_evidence | WBPaper00028472 | ||||||
Curator_confirmed | WBPerson48 | ||||||||
Maternal | |||||||||
Phenotype_assay | Temperature | 25 | Paper_evidence | WBPaper00028472 | |||||
Curator_confirmed | WBPerson48 | ||||||||
Reference | WBPaper00028472 | ||||||||
WBPaper00018049 | |||||||||
Method | Substitution_allele |