RS771489305 GALC

Health Risk Chr 14:87947745
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What This Variant Does
"aka c.1472delA, p.Lys491Argfs Identified in ClinVar as pathogenic for Krabbe disease (when inherited...
Associated Conditions
Galactosylceramide beta-galactosidase deficiency
Galactosylceramide beta-galactosidase deficiency
Other Variants in GALC
rs121908010 rs387906952 rs387906953 rs2139956292 rs199847983 rs387906954 rs387906955 rs398123175 rs34134328 rs147313927
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