rs121434550
- Pathogenic
Your Genotype
Sign InDescription
Reference Allele
A
Alternative Allele
T
Chromosome
1
Location
115738256
Variant Type
SNP
Genes
ClinVar
Name
NM_001232.4(CASQ2):c.500T>A (p.Leu167His)
Allele
T
Clinical Significance
Pathogenic
A
T
1
115738256
SNP
NM_001232.4(CASQ2):c.500T>A (p.Leu167His)
T
Pathogenic