rs267608677
- Pathogenic/Likely pathogenic
Your Genotype
Sign InDescription
This sequence change falls in intron 14 of the POLR3A gene. It does not directly change the encoded amino acid sequence of the POLR3A protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with leukodystrophy with oligodontia and/or Wiedemann–Rautenstrauch syndrome (PMID: 21855841, 27612211). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. This variant is also known as c.2003+18G>A and c.1911+18C>T. ClinVar contains an entry for this variant (Variation ID: 31144). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. For these reasons, this variant has been classified as Pathogenic.
Reference Allele
C
Alternative Allele
T
Chromosome
10
Location
78009519
Variant Type
SNP
Genes
ClinVar
Name
NM_007055.4(POLR3A):c.1909+18G>A
Allele
T
Clinical Significance
Pathogenic/Likely pathogenic