WormBase Tree Display for Variation: WBVar00145039
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WBVar00145039 | Evidence | Paper_evidence | WBPaper00031667 | |||||
---|---|---|---|---|---|---|---|---|
Name | Public_name | e2892 | ||||||
Other_name | CE54583:p.Asp30Asn | |||||||
T23F2.1a.1:c.46G>A | ||||||||
CE28488:p.Asp16Asn | ||||||||
T23F2.1b.1:c.88G>A | ||||||||
HGVSg | CHROMOSOME_X:g.5493805G>A | |||||||
Sequence_details | SMap | S_parent | Sequence | T23F2 | ||||
Flanking_sequences | gtccatcctgaacaatggaacgggggctcc | atcggtgcaccgttgcccttatcagacatt | ||||||
Mapping_target | T23F2 | |||||||
Type_of_mutation | Substitution | g | a | Paper_evidence | WBPaper00031667 | |||
SeqStatus | Sequenced | |||||||
Variation_type | Allele | |||||||
Origin | Species | Caenorhabditis elegans | ||||||
Laboratory | CB | |||||||
Status | Live | |||||||
Affects | Gene | WBGene00044623 | ||||||
Transcript | T23F2.1b.1 | VEP_consequence | missense_variant | |||||
VEP_impact | MODERATE | |||||||
HGVSc | T23F2.1b.1:c.88G>A | |||||||
HGVSp | CE54583:p.Asp30Asn | |||||||
cDNA_position | 88 | |||||||
CDS_position | 88 | |||||||
Protein_position | 30 | |||||||
Exon_number | 2/9 | |||||||
Codon_change | Gat/Aat | |||||||
Amino_acid_change | D/N | |||||||
T23F2.1a.1 (12) | ||||||||
Genetics | Interpolated_map_position | X | -5.24276 | |||||
Description | Phenotype | WBPhenotype:0000050 | Paper_evidence | WBPaper00031667 | ||||
Curator_confirmed | WBPerson712 | |||||||
Remark | 100% embryonic lethal | Paper_evidence | WBPaper00031667 | |||||
Curator_confirmed | WBPerson712 | |||||||
Penetrance | Complete | Paper_evidence | WBPaper00031667 | |||||
Curator_confirmed | WBPerson712 | |||||||
Reference | WBPaper00031667 | |||||||
Method | Substitution_allele |