Variant (rsID / SNP)

rs886037843

rs886037843 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLG2. Location: chromosome 17, position 62,492,543. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

POLG2Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:62492543
Cytoband: 17q23.3
HGVS: NM_007215.4(POLG2):c.544C>T (p.Arg182Trp)
Allele change: Missense_R182W

Associated conditions / phenotypes

Acute liver failure|Mitochondrial DNA depletion syndrome 16A|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4

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.