WormBase Tree Display for Variation: WBVar00000488
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WBVar00000488 | Evidence | Paper_evidence | WBPaper00005019 | ||
---|---|---|---|---|---|
Name | Public_name | bn86 | |||
Other_name | F54C1.3a.1:c.1008_1014del | ||||
CE53747:p.Glu338Ter | |||||
F54C1.3b.1:c.1008_1014del | |||||
F54C1.3a.2:c.1008_1014del | |||||
CE11046:p.Glu338Ter | |||||
HGVSg | CHROMOSOME_I:g.4999483_4999489del | ||||
Sequence_details | SMap | S_parent | Sequence | F54C1 | |
Flanking_sequences | cgagaatgcttggatgaataatgttaagca | tttataagcgatacaaattataacaaagag | |||
Mapping_target | F54C1 | ||||
Type_of_mutation | Deletion | ||||
SeqStatus | Sequenced | ||||
Variation_type | Allele | ||||
Origin | Species | Caenorhabditis elegans | |||
Laboratory | SS | ||||
Status | Live | ||||
Affects | Gene | WBGene00003221 | |||
Transcript | F54C1.3a.1 | VEP_consequence | frameshift_variant | ||
VEP_impact | HIGH | ||||
HGVSc | F54C1.3a.1:c.1008_1014del | ||||
HGVSp | CE11046:p.Glu338Ter | ||||
cDNA_position | 1013-1019 | ||||
CDS_position | 1008-1014 | ||||
Protein_position | 336-338 | ||||
Exon_number | 8/17 | ||||
Codon_change | caTTTGGAG/ca | ||||
Amino_acid_change | HLE/X | ||||
F54C1.3b.1 | VEP_consequence | frameshift_variant | |||
VEP_impact | HIGH | ||||
HGVSc | F54C1.3b.1:c.1008_1014del | ||||
HGVSp | CE53747:p.Glu338Ter | ||||
cDNA_position | 1017-1023 | ||||
CDS_position | 1008-1014 | ||||
Protein_position | 336-338 | ||||
Exon_number | 8/16 | ||||
Codon_change | caTTTGGAG/ca | ||||
Amino_acid_change | HLE/X | ||||
F54C1.3a.2 | VEP_consequence | frameshift_variant | |||
VEP_impact | HIGH | ||||
HGVSc | F54C1.3a.2:c.1008_1014del | ||||
HGVSp | CE11046:p.Glu338Ter | ||||
cDNA_position | 1013-1019 | ||||
CDS_position | 1008-1014 | ||||
Protein_position | 336-338 | ||||
Exon_number | 8/18 | ||||
Codon_change | caTTTGGAG/ca | ||||
Amino_acid_change | HLE/X | ||||
Genetics | Interpolated_map_position | I | -0.428848 | ||
Mapping_data | In_multi_point | 2096 | |||
Reference | WBPaper00005019 | ||||
Method | Deletion_allele |