rs587779779
- Likely pathogenic
Your Genotype
Sign InDescription
This variant is interpreted as Likely pathogenic for Mitochondrial complex IV deficiency, nuclear type 12, autosomal recessive. The following ACMG Tag(s) were applied: Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium (PM2); Protein length changes as a result of in-frame deletions/insertions in a nonrepeat region or stop-loss variants (PM4); Well-established functional studies show a deleterious effect (PS3 downgraded to moderate).
Reference Allele
C
Alternative Allele
T
Chromosome
19
Location
7631476
Variant Type
SNP
ClinVar
Name
NM_001171155.2(PET100):c.142C>T (p.Gln48Ter)
Allele
T
Clinical Significance
Likely pathogenic