WormBase Tree Display for Variation: WBVar01654814
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WBVar01654814 | Name | Public_name | WBVar01654814 | |||||
---|---|---|---|---|---|---|---|---|
Other_name | cewivar00341909 | |||||||
CE33749:p.Val116Ile | ||||||||
CE05095:p.Val116Ile | ||||||||
ZK563.4a.1:c.346G>A | ||||||||
ZK563.4b.1:c.346G>A | ||||||||
HGVSg | CHROMOSOME_X:g.3373737C>T | |||||||
Sequence_details | SMap | S_parent | Sequence | ZK563 | ||||
Flanking_sequences | GTTGGCAGCAAAACGGACCAAATAGGAGTA | GGTAGATGCAATCATACAGGAAATGGCAAG | ||||||
Mapping_target | ZK563 | |||||||
Source_location | 225 | CHROMOSOME_X | 3373724 | 3373724 | From_analysis | Million_mutation_project_reanalysis | ||
Type_of_mutation | Substitution | C | T | |||||
SeqStatus | Sequenced | |||||||
Variation_type | Natural_variant | |||||||
Origin | Species | Caenorhabditis elegans | ||||||
Strain | WBStrain00006629 | From_analysis | Million_mutation_project_reanalysis | |||||
Laboratory | VC | |||||||
Analysis | Million_mutation_project_reanalysis | |||||||
Status | Live | |||||||
Affects | Gene | WBGene00000524 | ||||||
Transcript | ZK563.4b.1 | VEP_consequence | missense_variant | |||||
VEP_impact | MODERATE | |||||||
SIFT | 0.07 | tolerated | ||||||
PolyPhen | 0.893 | possibly_damaging | ||||||
HGVSc | ZK563.4b.1:c.346G>A | |||||||
HGVSp | CE33749:p.Val116Ile | |||||||
cDNA_position | 420 | |||||||
CDS_position | 346 | |||||||
Protein_position | 116 | |||||||
Exon_number | 5/7 | |||||||
Codon_change | Gta/Ata | |||||||
Amino_acid_change | V/I | |||||||
ZK563.4a.1 | VEP_consequence | missense_variant | ||||||
VEP_impact | MODERATE | |||||||
SIFT | 0.06 | tolerated | ||||||
PolyPhen | 0.947 | possibly_damaging | ||||||
HGVSc | ZK563.4a.1:c.346G>A | |||||||
HGVSp | CE05095:p.Val116Ile | |||||||
cDNA_position | 418 | |||||||
CDS_position | 346 | |||||||
Protein_position | 116 | |||||||
Exon_number | 5/8 | |||||||
Codon_change | Gta/Ata | |||||||
Amino_acid_change | V/I | |||||||
Method | WGS_Flibotte |