Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs201732356

POLG

rs201732356 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLG. Location: chromosome 15, position 89,861,968. Clinical significance in the table: Likely pathogenic.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

POLGLikely pathogenic
Clinical significance (as recorded)
Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
15:89861968
Cytoband
15q26.1
HGVS
NM_002693.3(POLG):c.3286C>T (p.Arg1096Cys)
Allele change
Missense_R1096C

Associated conditions / phenotypes

Progressive sclerosing poliodystrophy|6 conditions|Childhood myocerebrohepatopathy spectrum|Mitochondrial disease|Abnormality of the nervous system

Public references

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