rs138298959
- Likely benign
Your Genotype
Sign InDescription
c.607-15T>C in intron 5 of CASQ2: This variant is not expected to have clinical significance because a T>C change at this position does not diverge from the sp lice consensus sequence and is therefore unlikely to impact splicing. It has bee n identified in 9/10038 African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs138298959).
Reference Allele
A
Alternative Allele
G
Chromosome
1
Location
115727137
Variant Type
SNP
Genes
ClinVar
Name
NM_001232.4(CASQ2):c.607-15T>C
Allele
G
Clinical Significance
Likely benign