Variant (rsID / SNP)

rs2307442

rs2307442 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLG. Location: chromosome 15, position 89,861,830. Clinical significance in the table: Uncertain significance.

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Reference-table entries

POLGUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 15:89861830
Cytoband: 15q26.1
HGVS: NM_002693.3(POLG):c.3424C>T (p.Arg1142Trp)
Allele change: Missense_R1142W

Associated conditions / phenotypes

Progressive sclerosing poliodystrophy|POLG-Related Spectrum Disorders

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.