Variant (rsID / SNP)

rs200477676

rs200477676 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLR3B. Location: chromosome 12, position 106,890,617. Clinical significance in the table: Uncertain significance.

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Reference-table entries

POLR3BUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 12:106890617
Cytoband: 12q23.3
HGVS: NM_018082.6(POLR3B):c.2905G>A (p.Val969Met)
Allele change: Missense_V969M

Associated conditions / phenotypes

Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism

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.