RS5742905 CBS
Upload your DNA to see your genotype for this variant.
What This Variant Does
"Regarding Homocystinuria, the I278T mutation has been associated with B6 responsiveness and a relati...
Associated Conditions
HYPERHOMOCYSTEINEMIA
THROMBOTIC
CBS-RELATED
Homocystinuria
pyridoxine-responsive
Classic homocystinuria
Intellectual disability
Connective tissue disorder
Familial thoracic aortic aneurysm and aortic dissection
See cases
Thoracic aortic aneurysm or dissection
Classic homocystinuria
HYPERHOMOCYSTEINEMIA
THROMBOTIC
CBS-RELATED
Other Variants in CBS