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Variant (rsID / SNP)

rs267608687

POLR3B

rs267608687 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLR3B. Location: chromosome 12, position 106,850,925. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

POLR3BConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
12:106850925
Cytoband
12q23.3
HGVS
NM_018082.6(POLR3B):c.2303G>A (p.Arg768His)
Allele change
Missense_R768H

Associated conditions / phenotypes

Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism|POLR3-related leukodystrophy

Public references

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