rs5030857(C;T)

Carrier of a phenylketonuria mutation

Is a	genotype
of	rs5030857
Gene	PAH
Chromosome	12
Position	102,840,507
mentioned	by

Magnitude

3

Repute

Bad

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Carrier of a phenylketonuria mutation
(T;T)	6	Phenylketonuria

Unaffected in absence of a second PAH gene mutation