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rs1057519286(G;T)

From SNPedia
Carrier of a MEPAN syndrome mutation
Is agenotype
ofrs1057519286
GeneMECR
Chromosome1
Position29,196,234
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(G;T) 3 Carrier of a MEPAN syndrome mutation
(T;T) 0 common in clinvar

Unaffected in absence of a second MECR gene mutation

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