rs754834466
- Pathogenic
Your Genotype
Sign InDescription
This sequence change creates a premature translational stop signal (p.Gln245*) in the CASQ2 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs754834466, ExAC 0.01%). This variant has not been reported in the literature in individuals with CASQ2-related conditions. Loss-of-function variants in CASQ2 are known to be pathogenic (PMID: 12386154). For these reasons, this variant has been classified as Pathogenic.
Reference Allele
G
Alternative Allele
A
C
Chromosome
1
Location
115726996
Variant Type
SNP
Genes
ClinVar
Name
NM_001232.4(CASQ2):c.733C>T (p.Gln245Ter)
Allele
A
Clinical Significance
Pathogenic