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Variant (rsID / SNP)

rs267608673

POLR3A

rs267608673 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLR3A. Location: chromosome 10, position 79,781,375. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

POLR3AConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
10:79781375
Cytoband
10q22.3
HGVS
NM_007055.4(POLR3A):c.1114G>A (p.Asp372Asn)
Allele change
Missense_D372N

Associated conditions / phenotypes

Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome

Public references

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