Variant (rsID / SNP)
rs121912683
rs121912683 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC25A4. Location: chromosome 4, position 186,066,174. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 4:186066174
- Cytoband
- 4q35.1
- HGVS
- NM_001151.4(SLC25A4):c.368C>A (p.Ala123Asp)
- Allele change
- Missense_A123D
Associated conditions / phenotypes
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive|Inborn mitochondrial myopathy|Mitochondrial respiratory chain defects|Hypertrophic cardiomyopathy|Abnormality of mitochondrial metabolism|Myopia|Progressive sensorineural hearing impairment|Vertigo|Left ventricular hypertrophy|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.