Variant (rsID / SNP)

rs199474662

rs199474662 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MT-TL1. Clinical significance in the table: Pathogenic.

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Reference-table entries

MT-TL1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: -
HGVS: m.3251A>G

Associated conditions / phenotypes

Progressive external ophthalmoplegia, proximal myopathy, and sudden death|Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

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.