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Variant (rsID / SNP)

rs141295770

SUCLA2

rs141295770 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SUCLA2. Location: chromosome 13, position 48,523,626. 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
13:48523626
Cytoband
13q14.2
HGVS
NM_003850.3(SUCLA2):c.1220G>T (p.Arg407Leu)
Allele change
Missense_R407L

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.