WormBase Tree Display for Variation: WBVar02052418
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WBVar02052418 | Name | Public_name | WBVar02052418 | |||||
---|---|---|---|---|---|---|---|---|
Other_name | cewivar00781614 | |||||||
CE30930:p.His178_Ala179del | ||||||||
EGAP1.3.1:c.532_537del | ||||||||
HGVSg | CHROMOSOME_III:g.5928784_5928789del | |||||||
Sequence_details | SMap | S_parent | Sequence | EGAP1 | ||||
Flanking_sequences | GATGTGAATTTGACCATTTGTCGGGAAGAA | AGCCAATGTTTTTGTGTCAAAGCGTACAGT | ||||||
Mapping_target | EGAP1 | |||||||
Source_location | 225 | CHROMOSOME_III | 5928739 | 5928744 | From_analysis | Million_mutation_project_reanalysis | ||
Type_of_mutation | Deletion | |||||||
SeqStatus | Sequenced | |||||||
Variation_type | Natural_variant | |||||||
Origin | Species | Caenorhabditis elegans | ||||||
Strain | WBStrain00022902 | From_analysis | Million_mutation_project_reanalysis | |||||
Laboratory | VC | |||||||
Analysis | Million_mutation_project_reanalysis | |||||||
Status | Live | |||||||
Affects | Gene | WBGene00006987 | ||||||
Transcript | EGAP1.3.1 | VEP_consequence | inframe_deletion | |||||
VEP_impact | MODERATE | |||||||
HGVSc | EGAP1.3.1:c.532_537del | |||||||
HGVSp | CE30930:p.His178_Ala179del | |||||||
cDNA_position | 574-579 | |||||||
CDS_position | 532-537 | |||||||
Protein_position | 178-179 | |||||||
Exon_number | 6/10 | |||||||
Codon_change | CACGCT/- | |||||||
Amino_acid_change | HA/- | |||||||
Method | WGS_Flibotte |