Variant (rsID / SNP)

rs397514662

rs397514662 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COX15. Location: chromosome 10, position 101,476,176. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

COX15Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 10:101476176
Cytoband: 10q24.2
HGVS: NM_078470.6(COX15):c.1030T>C (p.Ser344Pro)
Allele change: Missense_S344P

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.