rs2077190189
- Uncertain significance
Your Genotype
Sign InDescription
This sequence change affects codon 254 of the MUSK mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the MUSK protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MUSK-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a 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
C
Chromosome
9
Location
110747649
Variant Type
SNP
Genes
ClinVar
Name
NM_005592.4(MUSK):c.762T>A (p.Ser254=)
Allele
A
Clinical Significance
Uncertain significance