RS1057519287 MECR

Health Risk Chr 1:29216612
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What This Variant Does
"aka c.247_250delAATC (p.Asn83Hisfs) See MECR page for extensive discussion
Associated Conditions
Dystonia
childhood-onset
with optic atrophy and basal ganglia abnormalities
Childhood Onset Dystonias
Optic atrophy
Dystonia
childhood-onset
with optic atrophy and basal ganglia abnormalities
Childhood Onset Dystonias
Optic atrophy
Other Variants in MECR
rs762913101 rs1057519286 rs759218713 rs145192716 rs756421370 rs11544658 rs144073611 rs1574315873 rs778879465 rs761771473
Ask Dr. Hemsworth about this variant