WormBase Tree Display for Variation: WBVar00241324
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WBVar00241324 | Evidence | Paper_evidence | WBPaper00001234 | ||||
---|---|---|---|---|---|---|---|
Name (3) | |||||||
Sequence_details | SMap | S_parent | Sequence | F11C3 | |||
Flanking_sequences | accacgagaaccagtctatgctcattaccg | agaatctggagccggaaagactgagaacac | |||||
Mapping_target | F11C3 | ||||||
Type_of_mutation | Substitution | g | a | Paper_evidence | WBPaper00001234 | ||
SeqStatus | Sequenced | ||||||
Variation_type | Allele | ||||||
Origin | Species | Caenorhabditis elegans | |||||
Laboratory | TR | ||||||
Status | Live | ||||||
Affects | Gene | WBGene00006789 | |||||
Transcript | F11C3.3.1 | VEP_consequence | missense_variant | ||||
VEP_impact | MODERATE | ||||||
SIFT | 0 | deleterious | |||||
PolyPhen | 1 | probably_damaging | |||||
HGVSc | F11C3.3.1:c.521G>A | ||||||
HGVSp | CE09349:p.Gly174Glu | ||||||
cDNA_position | 553 | ||||||
CDS_position | 521 | ||||||
Protein_position | 174 | ||||||
Exon_number | 5/11 | ||||||
Codon_change | gGa/gAa | ||||||
Amino_acid_change | G/E | ||||||
Genetics | Interpolated_map_position | I | 27.9622 | ||||
Description | Phenotype | WBPhenotype:0000062 | Person_evidence | WBPerson261 | |||
Curator_confirmed | WBPerson712 | ||||||
Recessive | Person_evidence | WBPerson261 | |||||
Curator_confirmed | WBPerson712 | ||||||
WBPhenotype:0000644 | Person_evidence | WBPerson261 | |||||
Curator_confirmed | WBPerson712 | ||||||
Remark | severely paralysed | Person_evidence | WBPerson261 | ||||
Curator_confirmed | WBPerson712 | ||||||
Dominant | Person_evidence | WBPerson261 | |||||
Curator_confirmed | WBPerson712 | ||||||
Variation_effect | Dominant_negative_gain_of_function | Person_evidence | WBPerson261 | ||||
Curator_confirmed | WBPerson712 | ||||||
Reference | WBPaper00001234 | ||||||
Method | Substitution_allele |