Variant (rsID / SNP)
rs199504211
rs199504211 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLR3B. Location: chromosome 12, position 106,821,117. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:106821117
- Cytoband
- 12q23.3
- HGVS
- NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr)
- Allele change
- Missense_M415T
Associated conditions / phenotypes
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome|Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism|Hypogonadotropic hypogonadism 7 with or without anosmia|Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism|Amenorrhea|See cases
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.