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Variant (rsID / SNP)

rs864321624

SLC25A42

rs864321624 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC25A42. Location: chromosome 19, position 19,221,599. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

SLC25A42Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
19:19221599
Cytoband
19p13.11
HGVS
NM_178526.5(SLC25A42):c.871A>G (p.Asn291Asp)
Allele change
Missense_N291D

Associated conditions / phenotypes

Inborn mitochondrial myopathy|Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression|SLC25A42-related mitochondrial disorder

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.