Variant (rsID / SNP)

rs141647723

rs141647723 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SUCLA2. Location: chromosome 13, position 48,547,445. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SUCLA2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 13:48547445
Cytoband: 13q14.2
HGVS: NM_003850.3(SUCLA2):c.617A>G (p.Glu206Gly)
Allele change: Missense_E206G

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.