MitoTIP Sub-Scoring for Variant 4300G

MitoTIP Scoring Details


rCRS Position rCRS NT Query NT Numerical Scores Percentile Status
Variant Hx and Conservation Variant Location 2° Structure Prediction
4300 A G 11.219 1.731 3.785 16.736 79.30% 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