rs762500701
- Uncertain significance
Your Genotype
Sign InDescription
This sequence change falls in intron 6 of the MUSK gene. It does not directly change the encoded amino acid sequence of the MUSK protein. This variant is present in population databases (rs762500701, ExAC 0.03%). This variant has not been reported in the literature in individuals with MUSK-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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
A
Chromosome
9
Location
110747635
Variant Type
SNP
Genes
ClinVar
Name
NM_005592.4(MUSK):c.754-6T>A
Allele
A
Clinical Significance
Uncertain significance