Variant (rsID / SNP)

rs121908538

rs121908538 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SUCLA2. Location: chromosome 13, position 48,528,645. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SUCLA2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 13:48528645
Cytoband: 13q14.2
HGVS: NM_003850.3(SUCLA2):c.850C>T (p.Arg284Cys)
Allele change: Missense_R284C

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.