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Variant (rsID / SNP)

rs181087667

POLR3A

rs181087667 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLR3A. Location: chromosome 10, position 79,753,126. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

POLR3APathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
10:79753126
Cytoband
10q22.3
HGVS
NM_007055.4(POLR3A):c.2617-1G>A
Allele change
Silent

Associated conditions / phenotypes

Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome|Neonatal pseudo-hydrocephalic progeroid syndrome

Public references

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