WormBase Tree Display for Variation: WBVar00143789
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WBVar00143789 | Evidence | Paper_evidence | WBPaper00041308 | ||
---|---|---|---|---|---|
Name | Public_name | e1162 | |||
Other_name | CE45344:p.Ala347GlyfsTer11 | ||||
C27H6.1a.1:c.1038dup | |||||
CE45373:p.Ala65GlyfsTer11 | |||||
C27H6.1b.1:c.192dup | |||||
HGVSg | CHROMOSOME_V:g.9972073dup | ||||
Sequence_details (5) | |||||
Variation_type | Allele | ||||
Origin | Species | Caenorhabditis elegans | |||
Laboratory | CB | ||||
Status | Live | ||||
Affects | Gene | WBGene00006777 | |||
Transcript | C27H6.1b.1 | VEP_consequence | frameshift_variant,splice_region_variant | ||
VEP_impact | HIGH | ||||
HGVSc | C27H6.1b.1:c.192dup | ||||
HGVSp | CE45373:p.Ala65GlyfsTer11 | ||||
cDNA_position | 192-193 | ||||
CDS_position | 192-193 | ||||
Protein_position | 64-65 | ||||
Codon_change | -/G | ||||
Amino_acid_change | -/X | ||||
C27H6.1a.1 | VEP_consequence | frameshift_variant,splice_region_variant | |||
VEP_impact | HIGH | ||||
HGVSc | C27H6.1a.1:c.1038dup | ||||
HGVSp | CE45344:p.Ala347GlyfsTer11 | ||||
cDNA_position | 1050-1051 | ||||
CDS_position | 1038-1039 | ||||
Protein_position | 346-347 | ||||
Codon_change | -/G | ||||
Amino_acid_change | -/X | ||||
Genetics | Gene_class | unc | |||
Interpolated_map_position | V | 2.2235 | |||
Description (2) | |||||
Reference | WBPaper00041308 | ||||
WBPaper00002007 | |||||
WBPaper00014640 | |||||
WBPaper00061430 | |||||
Remark | Variation stub/paper connection generated from the May 2021 NN VFP dataset. | ||||
Created by WBPerson1983 from the NN_VFP_triage_pipeline | |||||
Method | Insertion_allele |