rs1057518656
- Likely pathogenic
Your Genotype
Sign InDescription
Our laboratory reported dual molecular diagnoses in GDF6 (NM_001001557.2, c.1271A>G) and SOX10 (NM_006941.3, c.316C>G) in one individual with reported features of developmental delay and unilateral hearing loss.
Reference Allele
G
Alternative Allele
C
T
Chromosome
22
Location
37983469
Variant Type
SNP
Phenotypes
ClinVar
Name
NM_006941.4(SOX10):c.316C>G (p.Arg106Gly)
Allele
C
Clinical Significance
Likely pathogenic