Total 8 pathogenic variants reported for Combined oxidative phosphorylation deficiency 53
Single Nucleotide Variant (1)
Microsatellite (1)
Duplication (1)
Deletion (5)
Variant Name
Variant Type
Variant Genomic Location
Clinical Significance
Phenotype Condition
Review Status
ClinGen Allele
dbSNP ID
Variation/condition record
NM_153689.6(C2orf69):c.929G>A (p.Trp310Ter)
SNV
Germline
Chr2:199925657
Pathogenic
Combined oxidative phosphorylation deficiency 53
No Assertion Criteria Provided
rs_2106636545
1 Submitters
RCV001533289