RS104894425 EIF2B2

Health Risk Chr 14:75005905 snv splice acceptor variant
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What This Variant Does
"[OMIM:?]
Associated Conditions
Vanishing white matter disease
See cases
Leukoencephalopathy with vanishing white matter 2
EIF2B2-related disorder
Leukoencephalopathy with vanishing white matter 1
Vanishing white matter disease
See cases
Leukoencephalopathy with vanishing white matter 2
EIF2B2-related disorder
Leukoencephalopathy with vanishing white matter 1
Population Frequencies
gnomAD ALL
0%
Other Variants in EIF2B2
rs104894426 rs104894427 rs104894428 rs113994014 rs397514648 rs113994012 rs767933078 rs766487534 rs766102981 rs756121992
Ask Dr. Hemsworth about this variant