Variant (rsID / SNP)

rs149321505

rs149321505 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SUCLA2. Location: chromosome 13, position 48,517,301. Clinical significance in the table: Benign.

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Reference-table entries

SUCLA2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 13:48517301
Cytoband: 13q14.2
HGVS: NM_003850.3(SUCLA2):c.*205T>C
Allele change: Silent

Associated conditions / phenotypes

Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria

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.