Variant (rsID / SNP)

rs777231247

rs777231247 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLG. Location: chromosome 15, position 89,860,701. 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: 15:89860701
Cytoband: 15q26.1
HGVS: NM_002693.3(POLG):c.3549C>T (p.Val1183=)
Allele change: Synonymous_V1183V

Associated conditions / phenotypes

POLG-Related Spectrum Disorders|Progressive sclerosing poliodystrophy

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.