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Variant (rsID / SNP)

rs144500145

POLG

rs144500145 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLG. Location: chromosome 15, position 89,865,011. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

POLGConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
15:89865011
Cytoband
15q26.1
HGVS
NM_002693.3(POLG):c.2554C>T (p.Arg852Cys)
Allele change
Missense_R852C

Associated conditions / phenotypes

Progressive sclerosing poliodystrophy|6 conditions|Intellectual disability|Hereditary spastic paraplegia

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.