Variant (rsID / SNP)

rs267608671

rs267608671 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLR3A. Location: chromosome 10, position 79,759,801. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

POLR3ALikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 10:79759801
Cytoband: 10q22.3
HGVS: NM_007055.4(POLR3A):c.2554A>G (p.Met852Val)
Allele change: Missense_M852V

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.