MitoTIP Sub-Scoring for Variant 7511C

MitoTIP Scoring Details


rCRS Position rCRS NT Query NT Numerical Scores Percentile Status
Variant Hx and Conservation Variant Location 2° Structure Prediction
7511 T C 11.500 1.741 3.292 16.533 78.10% 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)
0.02% ( 1 / 5973 ) 0.00% ( 0 / 10135 ) 0.00% ( 0 / 31304 )
    L2 0.08% ( 1 / 1317 )