WormBase Tree Display for Variation: WBVar00248899
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WBVar00248899 | Evidence | Paper_evidence | WBPaper00003778 | ||||||
---|---|---|---|---|---|---|---|---|---|
Name | Public_name | sy52 | |||||||
Other_name | F36H1.4h.1:c.714-1G>A | ||||||||
F36H1.4b.1:c.759-1G>A | |||||||||
F36H1.4e.1:c.747-1G>A | |||||||||
F36H1.4b.3:c.759-1G>A | |||||||||
F36H1.4a.1:c.765-1G>A | |||||||||
F36H1.4h.2:c.714-1G>A | |||||||||
F36H1.4c.1:c.720-1G>A | |||||||||
F36H1.4g.1:c.843-1G>A | |||||||||
F36H1.4d.1:c.837-1G>A | |||||||||
F36H1.4b.2:c.759-1G>A | |||||||||
F36H1.4f.1:c.882-1G>A | |||||||||
HGVSg | CHROMOSOME_IV:g.11061623G>A | ||||||||
Sequence_details | SMap | S_parent | Sequence | F36H1 | |||||
Flanking_sequences | ttgttcaaaaacaactatataaatgtttca | aatgtctaaacgatcggatgatatgacata | |||||||
Mapping_target | F36H1 | ||||||||
Type_of_mutation | Substitution | g | a | Paper_evidence | WBPaper00003778 | ||||
SeqStatus | Sequenced | ||||||||
Variation_type | Allele | ||||||||
Origin | Species | Caenorhabditis elegans | |||||||
Laboratory | PS | ||||||||
Status | Live | ||||||||
Affects | Gene | WBGene00002992 | |||||||
Transcript | F36H1.4g.1 | VEP_consequence | splice_acceptor_variant | ||||||
VEP_impact | HIGH | ||||||||
HGVSc | F36H1.4g.1:c.843-1G>A | ||||||||
Intron_number | 10/13 | ||||||||
F36H1.4b.3 | VEP_consequence | splice_acceptor_variant | |||||||
VEP_impact | HIGH | ||||||||
HGVSc | F36H1.4b.3:c.759-1G>A | ||||||||
Intron_number | 7/10 | ||||||||
F36H1.4d.1 | VEP_consequence | splice_acceptor_variant | |||||||
VEP_impact | HIGH | ||||||||
HGVSc | F36H1.4d.1:c.837-1G>A | ||||||||
Intron_number | 9/13 | ||||||||
F36H1.4f.1 | VEP_consequence | splice_acceptor_variant | |||||||
VEP_impact | HIGH | ||||||||
HGVSc | F36H1.4f.1:c.882-1G>A | ||||||||
Intron_number | 7/10 | ||||||||
F36H1.4b.1 | VEP_consequence | splice_acceptor_variant | |||||||
VEP_impact | HIGH | ||||||||
HGVSc | F36H1.4b.1:c.759-1G>A | ||||||||
Intron_number | 8/12 | ||||||||
F36H1.4c.1 | VEP_consequence | splice_acceptor_variant | |||||||
VEP_impact | HIGH | ||||||||
HGVSc | F36H1.4c.1:c.720-1G>A | ||||||||
Intron_number | 9/13 | ||||||||
F36H1.4a.1 | VEP_consequence | splice_acceptor_variant | |||||||
VEP_impact | HIGH | ||||||||
HGVSc | F36H1.4a.1:c.765-1G>A | ||||||||
Intron_number | 9/13 | ||||||||
F36H1.4h.2 | VEP_consequence | splice_acceptor_variant | |||||||
VEP_impact | HIGH | ||||||||
HGVSc | F36H1.4h.2:c.714-1G>A | ||||||||
Intron_number | 8/12 | ||||||||
F36H1.4h.1 | VEP_consequence | splice_acceptor_variant | |||||||
VEP_impact | HIGH | ||||||||
HGVSc | F36H1.4h.1:c.714-1G>A | ||||||||
Intron_number | 9/13 | ||||||||
F36H1.4e.1 | VEP_consequence | splice_acceptor_variant | |||||||
VEP_impact | HIGH | ||||||||
HGVSc | F36H1.4e.1:c.747-1G>A | ||||||||
Intron_number | 6/9 | ||||||||
F36H1.4b.2 | VEP_consequence | splice_acceptor_variant | |||||||
VEP_impact | HIGH | ||||||||
HGVSc | F36H1.4b.2:c.759-1G>A | ||||||||
Intron_number | 9/13 | ||||||||
Genetics | Interpolated_map_position | IV | 4.82152 | ||||||
Description | Phenotype | WBPhenotype:0000117 | Paper_evidence | WBPaper00001573 | |||||
Curator_confirmed | WBPerson625 | ||||||||
Remark | L1 lethal | Paper_evidence | WBPaper00001573 | ||||||
Curator_confirmed | WBPerson625 | ||||||||
EQ_annotations | Life_stage | WBls:0000024 | PATO:0000460 | Paper_evidence | WBPaper00001573 | ||||
Curator_confirmed | WBPerson625 | ||||||||
Reference | WBPaper00001573 | ||||||||
WBPaper00003778 | |||||||||
Method | Substitution_allele |