Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs141659018

POLR3A

rs141659018 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLR3A. Location: chromosome 10, position 79,782,028. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

POLR3APathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
10:79782028
Cytoband
10q22.3
HGVS
NM_007055.4(POLR3A):c.760C>T (p.Arg254Ter)
Allele change
Nonsense_R254X

Associated conditions / phenotypes

Neonatal pseudo-hydrocephalic progeroid syndrome|Wiedemann-Rautenstrauch-like progeroid syndrome

Public references

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