rs1057522481
- Likely benign
Your Genotype
Sign InDescription
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Reference Allele
T
Alternative Allele
C
Chromosome
1
Location
115727108
Variant Type
SNP
Genes
Phenotypes
ClinVar
Name
NM_001232.4(CASQ2):c.621A>G (p.Leu207=)
Allele
C
Clinical Significance
Likely benign