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Variant (rsID / SNP)

rs200167311

SUCLA2

rs200167311 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SUCLA2. Location: chromosome 13, position 48,528,397. 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
13:48528397
Cytoband
13q14.2
HGVS
NM_003850.3(SUCLA2):c.985A>G (p.Met329Val)
Allele change
Missense_M329V

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.