RS121964962 CBS

Health Risk Chr 21:43062987 snv missense variant
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What This Variant Does
"[OMIM:?]
Associated Conditions
Homocystinuria
pyridoxine-nonresponsive
HYPERHOMOCYSTEINEMIA
THROMBOTIC
CBS-RELATED
Classic homocystinuria
Familial thoracic aortic aneurysm and aortic dissection
CBS-related disorder
Homocystinuria
pyridoxine-nonresponsive
HYPERHOMOCYSTEINEMIA
THROMBOTIC
CBS-RELATED
Classic homocystinuria
Familial thoracic aortic aneurysm and aortic dissection
Population Frequencies
gnomAD ALL
100%
Other Variants in CBS
rs121964963 rs121964964 rs5742905 rs121964965 rs121964966 rs121964967 rs121964968 rs121964969 rs28934891 rs121964970
Ask Dr. Hemsworth about this variant