rs201134491
- Uncertain significance
Your Genotype
Sign InDescription
This sequence change disrupts the translational stop signal of the MUSK mRNA. It is expected to extend the length of the MUSK protein by 2 additional amino acid residues. This variant is present in population databases (rs201134491, ExAC 0.1%). This variant has not been reported in the literature in individuals with MUSK-related conditions. ClinVar contains an entry for this variant (Variation ID: 644038). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Reference Allele
T
Alternative Allele
C
Chromosome
9
Location
110800986
Variant Type
SNP
Genes
ClinVar
Name
NM_005592.4(MUSK):c.2608T>C (p.Ter870Gln)
Allele
C
Clinical Significance
Uncertain significance