WormBase Tree Display for Variation: WBVar00249213
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WBVar00249213 | Evidence | Paper_evidence | WBPaper00005629 | ||||
---|---|---|---|---|---|---|---|
Name | Public_name | t2012 | |||||
Other_name | T28F12.2f.1:c.3G>A | ||||||
T28F12.2c.1:c.-1927G>A | |||||||
CE21219:p.Met1? | |||||||
CE33585:p.Met1? | |||||||
T28F12.2d.2:c.-1363G>A | |||||||
T28F12.2d.1:c.-1345G>A | |||||||
T28F12.2a.1:c.3G>A | |||||||
HGVSg | CHROMOSOME_V:g.4497469G>A | ||||||
Sequence_details | SMap | S_parent | Sequence | H06N16 | |||
Flanking_sequences | aaatttaatatttctctcttgcaggaacat | agcggcgactcaaaagtgtgggctcacgc | |||||
Mapping_target | H06N16 | ||||||
Type_of_mutation | Substitution | g | a | Paper_evidence | WBPaper00005629 | ||
SeqStatus | Sequenced | ||||||
Variation_type | Allele | ||||||
Origin | Species | Caenorhabditis elegans | |||||
Strain | WBStrain00003994 | ||||||
Laboratory | GE | ||||||
Status | Live | ||||||
Affects | Gene | WBGene00006796 | |||||
Transcript | T28F12.2c.1 | VEP_consequence | 5_prime_UTR_variant | ||||
VEP_impact | MODIFIER | ||||||
HGVSc | T28F12.2c.1:c.-1927G>A | ||||||
cDNA_position | 1 | ||||||
Exon_number | 1/11 | ||||||
T28F12.2d.1 | VEP_consequence | 5_prime_UTR_variant | |||||
VEP_impact | MODIFIER | ||||||
HGVSc | T28F12.2d.1:c.-1345G>A | ||||||
cDNA_position | 7 | ||||||
Exon_number | 1/12 | ||||||
T28F12.2a.1 (12) | |||||||
T28F12.2d.2 | VEP_consequence | 5_prime_UTR_variant | |||||
VEP_impact | MODIFIER | ||||||
HGVSc | T28F12.2d.2:c.-1363G>A | ||||||
cDNA_position | 9 | ||||||
Exon_number | 1/12 | ||||||
T28F12.2f.1 (12) | |||||||
Interactor | WBInteraction000503924 | ||||||
Genetics | Interpolated_map_position | V | -5.20057 | ||||
Description | Phenotype | WBPhenotype:0000052 | Paper_evidence | WBPaper00035977 | |||
Curator_confirmed | WBPerson712 | ||||||
WBPhenotype:0000274 | Paper_evidence | WBPaper00037125 | |||||
Curator_confirmed | WBPerson712 | ||||||
Maternal | |||||||
Disease_info | Models_disease | DOID:1240 | |||||
Models_disease_in_annotation | WBDOannot00000564 | ||||||
Reference | WBPaper00005629 | ||||||
WBPaper00015436 | |||||||
WBPaper00035977 | |||||||
WBPaper00037125 | |||||||
Method | Substitution_allele |