Variant (rsID / SNP)

rs267608670

rs267608670 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLR3A. Location: chromosome 10, position 79,767,519. Clinical significance in the table: Pathogenic.

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Reference-table entries

POLR3APathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 10:79767519
Cytoband: 10q22.3
HGVS: NM_007055.4(POLR3A):c.2015G>A (p.Gly672Glu)
Allele change: Missense_G672E

Associated conditions / phenotypes

Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome

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.