Variant (rsID / SNP)

rs886041081

rs886041081 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC25A4. Location: chromosome 4, position 186,066,045. Clinical significance in the table: Pathogenic.

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Reference-table entries

SLC25A4Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 4:186066045
Cytoband: 4q35.1
HGVS: NM_001151.4(SLC25A4):c.239G>A (p.Arg80His)
Allele change: Missense_R80H

Associated conditions / phenotypes

Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant|Mitochondrial disease|Inborn genetic diseases

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.