rs200177031
- Pathogenic
Your Genotype
Sign InDescription
Reference Allele
C
Alternative Allele
T
Chromosome
13
Location
39677550
Variant Type
SNP
Genes
ClinVar
Name
NM_020751.3(COG6):c.511C>T (p.Arg171Ter)
Allele
T
Clinical Significance
Pathogenic
C
T
13
39677550
SNP
NM_020751.3(COG6):c.511C>T (p.Arg171Ter)
T
Pathogenic