Variant (rsID / SNP)

rs142020748

rs142020748 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SUCLA2. Location: chromosome 13, position 48,528,684. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SUCLA2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 13:48528684
Cytoband: 13q14.2
HGVS: NM_003850.3(SUCLA2):c.811A>G (p.Met271Val)
Allele change: Missense_M271V

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.