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Variant (rsID / SNP)

rs199476138

MT-ATP6

rs199476138 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MT-ATP6. Clinical significance in the table: Pathogenic.

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Reference-table entries

MT-ATP6Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Cytoband
-
HGVS
NC_012920.1:m.9185T>C

Associated conditions / phenotypes

Leigh syndrome|Charcot-Marie-Tooth disease|Mitochondrial disease|Mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1|Leber optic atrophy|Mitochondrial DNA-Associated Leigh Syndrome and NARP

Public references

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