rs1648034747
- Pathogenic
Your Genotype
Sign InDescription
This sequence change creates a premature translational stop signal (p.Gln156*) in the CASQ2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). 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
Chromosome
1
Location
115738290
Variant Type
SNP
Genes
ClinVar
Name
NM_001232.4(CASQ2):c.466C>T (p.Gln156Ter)
Allele
A
Clinical Significance
Pathogenic