Variant (rsID / SNP)

rs76530337

rs76530337 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COX15. Location: chromosome 10, position 101,469,354. Clinical significance in the table: Uncertain significance.

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Reference-table entries

COX15Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 10:101469354
Cytoband: 10q24.2
HGVS: NM_020354.5(ENTPD7):c.*4914T>C
Allele change: Silent

Associated conditions / phenotypes

Leigh syndrome

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.