rs28942100(C;T)

Carrier of a alkaptonuria mutation

Is a	genotype
of	rs28942100
Gene	HGD
Chromosome	3
Position	120,644,405
mentioned	by

Magnitude

3

Repute

Bad

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

Unaffected in absence of a second HGD gene mutation