rs121908687
- Pathogenic/Likely pathogenic
Your Genotype
Sign InDescription
This variant has been previously reported as disease-causing and was found once in our laboratory homozygous in a 24-year-old male with adult-onset progressive lower limb weakness/stiffness, spastic gait, hyperthyroidism, diffuse brain atrophy, simialrly affected brother (not tested).
Reference Allele
G
Alternative Allele
A
Chromosome
22
Location
38112541
Variant Type
SNP
ClinVar
Name
NM_003560.4(PLA2G6):c.2239C>T (p.Arg747Trp)
Allele
A
Clinical Significance
Pathogenic/Likely pathogenic