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rs1057519287(-;AATC)

From SNPedia
Carrier of a MEPAN syndrome mutation
Is agenotype
ofrs1057519287
GeneMECR
Chromosome1
Position29,216,612
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(-;AATC) 3 Carrier of a MEPAN syndrome mutation
(AATC;AATC) 0 common in clinvar

Unaffected in absence of a second MECR gene mutation