Variant (rsID / SNP)

rs2307447

rs2307447 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLG. Location: chromosome 15, position 89,869,919. Clinical significance in the table: Benign.

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Reference-table entries

POLGBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 15:89869919
Cytoband: 15q26.1
HGVS: NM_002693.3(POLG):c.1636C>T (p.Arg546Cys)
Allele change: Missense_R546C

Associated conditions / phenotypes

Mitochondrial disease|Progressive sclerosing poliodystrophy|Seizure

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.