rs759218713(C;T)

Carrier of a MEPAN syndrome mutation

Is a	genotype
of	rs759218713
Gene	MECR
Chromosome	1
Position	29,196,235
mentioned	by

Magnitude

3

Repute

Bad

Geno	Mag	Summary
(C;T)	3	Carrier of a MEPAN syndrome mutation
(T;T)	0	common in clinvar

Unaffected in absence of a second MECR gene mutation