rs141659018
- Pathogenic/Likely pathogenic
Your Genotype
Sign InDescription
Reference Allele
G
Alternative Allele
A
Chromosome
10
Location
78022270
Variant Type
SNP
Genes
Phenotypes
Wiedemann-Rautenstrauch-like progeroid syndrome
ClinVar
Name
NM_007055.4(POLR3A):c.760C>T (p.Arg254Ter)
Allele
A
Clinical Significance
Pathogenic/Likely pathogenic