Variant (rsID / SNP)
rs73186443
rs73186443 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLR3B. Location: chromosome 12, position 106,751,485. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
POLR3BConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:106751485
- Cytoband
- 12q23.3
- HGVS
- NM_018082.5(POLR3B):c.-173C>T
- Allele change
- Silent
Associated conditions / phenotypes
Pol III-related leukodystrophy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.