Variant (rsID / SNP)

rs147700538

rs147700538 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COX20. Location: chromosome 1, position 245,005,536. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

COX20Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 1:245005536
Cytoband: 1q44
HGVS: NM_198076.6(COX20):c.197T>G (p.Phe66Cys)
Allele change: Missense_F66C

Associated conditions / phenotypes

Cytochrome-c oxidase deficiency disease

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.