Variant (rsID / SNP)
rs138249161
rs138249161 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLR3B. Location: chromosome 12, position 106,826,199. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:106826199
- Cytoband
- 12q23.3
- HGVS
- NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu)
- Allele change
- Missense_V523E
Associated conditions / phenotypes
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism|Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism|Hypogonadotropic hypogonadism 7 with or without anosmia|Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome|Pol III-related leukodystrophy|POLR3-related leukodystrophy|Hypogonadotropic hypogonadism|See cases
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.