rs757373635
- Likely benign
Your Genotype
Sign InDescription
In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 31996268)
Reference Allele
C
Alternative Allele
T
Chromosome
2
Location
219251158
Variant Type
SNP
Genes
Phenotypes
ClinVar
Name
NM_006000.3(TUBA4A):c.541G>A (p.Val181Met)
Allele
T
Clinical Significance
Likely benign