rs141484643
- Pathogenic
- Likely pathogenic
Your Genotype
Sign InDescription
Canonical splice site variant expected to result in aberrant splicing, although in the absence of functional evidence the actual effect of this sequence change is unknown.; Not observed at significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 30414627, 27535533)
Reference Allele
C
Alternative Allele
A
G
T
Chromosome
10
Location
78013649
Variant Type
SNP
Genes
ClinVar
Name
NM_007055.4(POLR3A):c.1572+1G>A
Allele
T
Clinical Significance
Pathogenic
Name
NM_007055.4(POLR3A):c.1572+1G>T
Allele
A
Clinical Significance
Likely pathogenic