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rs762913101(C;T)

From SNPedia
Carrier of a MEPAN syndrome mutation
Is agenotype
ofrs762913101
GeneMECR
Chromosome1
Position29,202,004
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a MEPAN syndrome mutation

Unaffected in absence of a second MECR gene mutation

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