Variant (rsID / SNP)

rs113994093

rs113994093 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLG. Location: chromosome 15, position 89,873,472. Clinical significance in the table: Pathogenic.

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Reference-table entries

POLGPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 15:89873472
Cytoband: 15q26.1
HGVS: NM_002693.3(POLG):c.695G>A (p.Arg232His)
Allele change: Missense_R232H

Associated conditions / phenotypes

Mitochondrial disease

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.