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Variant (rsID / SNP)

rs367890526

SUCLA2

rs367890526 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SUCLA2. Location: chromosome 13, position 48,563,129. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SUCLA2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
13:48563129
Cytoband
13q14.2
HGVS
NM_003850.3(SUCLA2):c.272-13G>C
Allele change
Silent

Associated conditions / phenotypes

Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria

Public references

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