Variants
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rs587779779

  • Likely pathogenic

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Description

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

Genes

ClinVar

Name

NM_001171155.2(PET100):c.142C>T (p.Gln48Ter)


Allele

T


Clinical Significance

Likely pathogenic

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