Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs62640034

POLG

rs62640034 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLG. Location: chromosome 15, position 89,870,445. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

POLGConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
15:89870445
Cytoband
15q26.1
HGVS
NM_002693.3(POLG):c.1386G>A (p.Ser462=)
Allele change
Synonymous_S462S

Associated conditions / phenotypes

POLG-Related Spectrum Disorders|Progressive sclerosing poliodystrophy|Hereditary spastic paraplegia

Public references

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