Variant (rsID / SNP)

rs146253630

rs146253630 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLR3A. Location: chromosome 10, position 79,745,881. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

POLR3ABenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 10:79745881
Cytoband: 10q22.3
HGVS: NM_007055.4(POLR3A):c.2938A>G (p.Ile980Val)
Allele change: Missense_I980V

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.