Variant (rsID / SNP)

rs531425336

rs531425336 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC25A3. Location: chromosome 12, position 98,992,311. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SLC25A3Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 12:98992311
Cytoband: 12q23.1
HGVS: NM_002635.4(SLC25A3):c.471T>C (p.Tyr157=)
Allele change: Synonymous_Y158Y

Associated conditions / phenotypes

Cardiomyopathy-hypotonia-lactic acidosis syndrome

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.