RS606231128 DOK7

Health Risk Chr 4:3493106
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What This Variant Does
"rs606231128, also known as c.1124_1127dupTGCC or p.Ala378Serfs, represents a rare mutation in the DO...
Associated Conditions
Congenital myasthenic syndrome 10
Congenital myasthenic syndrome
Inborn genetic diseases
Fetal akinesia deformation sequence 1
Fetal akinesia deformation sequence 3
See cases
DOK7-related disorder
Ritscher-Schinzel syndrome 2
Congenital myasthenic syndrome 10
Congenital myasthenic syndrome
Inborn genetic diseases
Fetal akinesia deformation sequence 1
Fetal akinesia deformation sequence 3
See cases
DOK7-related disorder
Other Variants in DOK7
rs606231129 rs606231130 rs606231131 rs606231132 rs118203994 rs118203995 rs863223277 rs606231133 rs150376433 rs370879328
Ask Dr. Hemsworth about this variant