rs200434321
- Conflicting interpretations of pathogenicity
Your Genotype
Sign InDescription
Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Reference Allele
G
Alternative Allele
A
Chromosome
9
Location
110767925
Variant Type
SNP
Genes
LOC107987115
ClinVar
Name
NM_005592.4(MUSK):c.1026G>A (p.Ala342=)
Allele
A
Clinical Significance
Conflicting interpretations of pathogenicity