WormBase Tree Display for Variation: WBVar00248904
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WBVar00248904 | Evidence | Paper_evidence | WBPaper00001485 | ||||
---|---|---|---|---|---|---|---|
Name | Public_name | sy92 | |||||
Other_name | CE03827:p.Ser89Phe | ||||||
ZK792.6.1:c.266C>T | |||||||
HGVSg | CHROMOSOME_IV:g.11690117G>A | ||||||
Sequence_details | SMap | S_parent | Sequence | ZK792 | |||
Flanking_sequences | tgttggttttcgccgtcaacgaggctaaat | tttcgagaatgtcgctaactaccgcgagca | |||||
Mapping_target | ZK792 | ||||||
Type_of_mutation | Substitution | c | t | Paper_evidence | WBPaper00001485 | ||
SeqStatus | Sequenced | ||||||
Variation_type | Allele | ||||||
Origin | Species | Caenorhabditis elegans | |||||
Strain | WBStrain00030818 | ||||||
Laboratory | PS | ||||||
Status | Live | ||||||
Affects | Gene | WBGene00002335 | |||||
Transcript | ZK792.6.1 | VEP_consequence | missense_variant | ||||
VEP_impact | MODERATE | ||||||
HGVSc | ZK792.6.1:c.266C>T | ||||||
HGVSp | CE03827:p.Ser89Phe | ||||||
cDNA_position | 277 | ||||||
CDS_position | 266 | ||||||
Protein_position | 89 | ||||||
Exon_number | 3/6 | ||||||
Codon_change | tCt/tTt | ||||||
Amino_acid_change | S/F | ||||||
Genetics | Interpolated_map_position | IV | 5.21005 | ||||
Description | Phenotype | WBPhenotype:0000062 | Person_evidence | WBPerson261 | |||
Curator_confirmed | WBPerson712 | ||||||
Remark | recessive lethal | Person_evidence | WBPerson261 | ||||
Curator_confirmed | WBPerson712 | ||||||
Recessive | Person_evidence | WBPerson261 | |||||
Curator_confirmed | WBPerson712 | ||||||
WBPhenotype:0000698 | Person_evidence | WBPerson261 | |||||
Curator_confirmed | WBPerson712 | ||||||
Remark | weaker dominant | Person_evidence | WBPerson261 | ||||
Curator_confirmed | WBPerson712 | ||||||
Dominant | Person_evidence | WBPerson261 | |||||
Curator_confirmed | WBPerson712 | ||||||
Reference | WBPaper00001485 | ||||||
Method | Substitution_allele |