rs201902227
- Benign
Your Genotype
Sign InDescription
The NC_012920.1:m.8478C>T (YP_003024030.1:p.Ser38Leu) variant in MTATP8 gene is interpretated to be a Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: BS1, BS2, BP4
Reference Allele
C
Alternative Allele
T
Chromosome
MT
Location
8478
Variant Type
SNP
Phenotypes
ClinVar
Name
NC_012920.1:m.8478C>T
Allele
T
Clinical Significance
Benign