MitoTIP Sub-Scoring for Variant 4308A

MitoTIP Scoring Details


rCRS Position rCRS NT Query NT Numerical Scores Percentile Status
Variant Hx and Conservation Variant Location 2° Structure Prediction
4308 G A 11.500 1.966 3.785 17.252 82.10% confirmed pathogenic *
* Additional lines of evidence led to confirmation of pathogenicity for this tRNA variant. Examples of factors supporting confirmation of pathogencity: determination of heteroplasmy levels; correlation of heteroplasmy with phenotype; presence of variant in multiple unrelated affected families; functional cybrid studies; tRNA steady state levels; single fiber studies.

GenBank Frequency Information

L lineages
African
M lineages
Asian
N lineages
Eurasian
Highest hg lineage(s)
0.00% ( 0 / 5991 ) 0.00% ( 0 / 10520 ) 0.00% ( 0 / 32371 ) NA