WormBase Tree Display for Variation: WBVar00142999
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WBVar00142999 | Evidence | Paper_evidence | WBPaper00006358 | ||||
---|---|---|---|---|---|---|---|
Name | Public_name | e155 | |||||
Other_name | ZK721.2.1:c.28C>T | ||||||
CE40008:p.Gln10Ter | |||||||
HGVSg | CHROMOSOME_X:g.8789483C>T | ||||||
Sequence_details | SMap | S_parent | Sequence | ZK721 | |||
Flanking_sequences | cagatgagtgaagaagccggagaggacgcc | agcgcaaagctgccgagcgcgaggccaaga | |||||
Mapping_target | ZK721 | ||||||
Type_of_mutation | Substitution | c | t | ||||
SeqStatus | Sequenced | ||||||
Variation_type | Allele | ||||||
Origin | Species | Caenorhabditis elegans | |||||
Strain | WBStrain00004113 | ||||||
WBStrain00006356 | |||||||
Laboratory | CB | ||||||
Status | Live | ||||||
Affects | Gene | WBGene00006764 | |||||
Transcript | ZK721.2.1 | VEP_consequence | stop_gained | ||||
VEP_impact | HIGH | ||||||
HGVSc | ZK721.2.1:c.28C>T | ||||||
HGVSp | CE40008:p.Gln10Ter | ||||||
cDNA_position | 28 | ||||||
CDS_position | 28 | ||||||
Protein_position | 10 | ||||||
Exon_number | 1/6 | ||||||
Codon_change | Cag/Tag | ||||||
Amino_acid_change | Q/* | ||||||
Genetics | Interpolated_map_position | X | 0.394361 | ||||
Mapping_data | In_2_point | 148 | |||||
291 | |||||||
3153 | |||||||
3660 | |||||||
3661 | |||||||
3668 | |||||||
3669 | |||||||
6027 | |||||||
In_multi_point (15) | |||||||
In_pos_neg_data | 938 | ||||||
1839 | |||||||
1843 | |||||||
3651 | |||||||
6724 | |||||||
6726 | |||||||
7302 | |||||||
7303 | |||||||
7304 | |||||||
Description | Phenotype | WBPhenotype:0000583 | Person_evidence | WBPerson261 | |||
Curator_confirmed | WBPerson712 | ||||||
Remark | slightly dumpy | Person_evidence | WBPerson261 | ||||
Curator_confirmed | WBPerson712 | ||||||
WBPhenotype:0000604 | Person_evidence | WBPerson261 | |||||
Curator_confirmed | WBPerson712 | ||||||
Remark | some neuroanatomical defects | Person_evidence | WBPerson261 | ||||
Curator_confirmed | WBPerson712 | ||||||
WBPhenotype:0000643 | Paper_evidence | WBPaper00000031 | |||||
Curator_confirmed | WBPerson48 | ||||||
WBPhenotype:0000646 | Person_evidence | WBPerson261 | |||||
Curator_confirmed | WBPerson712 | ||||||
Ease_of_scoring | ES3_Easy_to_score | Person_evidence | WBPerson261 | ||||
Curator_confirmed | WBPerson712 | ||||||
WBPhenotype:0000926 | Person_evidence | WBPerson261 | |||||
Curator_confirmed | WBPerson712 | ||||||
Remark | abnormal body muscle | Person_evidence | WBPerson261 | ||||
Curator_confirmed | WBPerson712 | ||||||
WBPhenotype:0001005 | Person_evidence | WBPerson261 | |||||
Curator_confirmed | WBPerson712 | ||||||
Remark | poor backing | Person_evidence | WBPerson261 | ||||
Curator_confirmed | WBPerson712 | ||||||
Phenotype_not_observed | WBPhenotype:0001645 | Paper_evidence | WBPaper00040284 | ||||
Curator_confirmed | WBPerson2987 | ||||||
Remark | Table S2 | Paper_evidence | WBPaper00040284 | ||||
Curator_confirmed | WBPerson2987 | ||||||
Reference | WBPaper00040284 | ||||||
WBPaper00000031 | |||||||
WBPaper00025009 | |||||||
WBPaper00018466 | |||||||
WBPaper00023023 | |||||||
WBPaper00006358 | |||||||
WBPaper00014264 | |||||||
Method | Substitution_allele |