Variant (rsID / SNP)

rs121909602

rs121909602 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COX6B1. Location: chromosome 19, position 36,142,204. Clinical significance in the table: Pathogenic.

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Reference-table entries

COX6B1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:36142204
Cytoband: 19q13.12
HGVS: NM_001863.5(COX6B1):c.59G>A (p.Arg20His)
Allele change: Missense_R20H

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.