WormBase Tree Display for Variation: WBVar02045242
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WBVar02045242 | Name | Public_name | WBVar02045242 | |||||
---|---|---|---|---|---|---|---|---|
Other_name | cewivar00774359 | |||||||
CE43169:p.Met896_Gln897del | ||||||||
C23H4.6b.1:c.2684_2689del | ||||||||
C23H4.6a.1:c.2834_2839del | ||||||||
CE08332:p.Met946_Gln947del | ||||||||
HGVSg | CHROMOSOME_X:g.12239870_12239875del | |||||||
Sequence_details | SMap | S_parent | Sequence | C23H4 | ||||
Flanking_sequences | CTTGTCGAATGTTGGAAGAAGTTGTTGAGG | AAACAGTGCACAATGGTCGATTGAAAGCCT | ||||||
Mapping_target | C23H4 | |||||||
Source_location | 225 | CHROMOSOME_X | 12239802 | 12239807 | From_analysis | Million_mutation_project_reanalysis | ||
Type_of_mutation | Deletion | |||||||
SeqStatus | Sequenced | |||||||
Variation_type | Natural_variant | |||||||
Origin | Species | Caenorhabditis elegans | ||||||
Strain | WBStrain00022850 | From_analysis | Million_mutation_project_reanalysis | |||||
Laboratory | VC | |||||||
Analysis | Million_mutation_project_reanalysis | |||||||
Status | Live | |||||||
Affects | Gene | WBGene00007694 | ||||||
Transcript | C23H4.6b.1 | VEP_consequence | inframe_deletion | |||||
VEP_impact | MODERATE | |||||||
HGVSc | C23H4.6b.1:c.2684_2689del | |||||||
HGVSp | CE43169:p.Met896_Gln897del | |||||||
cDNA_position | 2684-2689 | |||||||
CDS_position | 2684-2689 | |||||||
Protein_position | 895-897 | |||||||
Exon_number | 5/6 | |||||||
Codon_change | gAAATGCaa/gaa | |||||||
Amino_acid_change | EMQ/E | |||||||
C23H4.6a.1 | VEP_consequence | inframe_deletion | ||||||
VEP_impact | MODERATE | |||||||
HGVSc | C23H4.6a.1:c.2834_2839del | |||||||
HGVSp | CE08332:p.Met946_Gln947del | |||||||
cDNA_position | 2849-2854 | |||||||
CDS_position | 2834-2839 | |||||||
Protein_position | 945-947 | |||||||
Exon_number | 7/9 | |||||||
Codon_change | gAAATGCaa/gaa | |||||||
Amino_acid_change | EMQ/E | |||||||
Method | WGS_Flibotte |