Variant (rsID / SNP)

rs28939711

rs28939711 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COX15. Location: chromosome 10, position 101,483,814. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

COX15Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 10:101483814
Cytoband: 10q24.2
HGVS: NM_078470.6(COX15):c.649C>T (p.Arg217Trp)
Allele change: Missense_R217W

Associated conditions / phenotypes

Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2

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.