rs375846341(G;T)

Carrier of a homocystinuria mutation

Is a	genotype
of	rs375846341
Gene	CBS, CBSL
Chromosome	21
Position	43,058,970
mentioned	by

Magnitude

3

Repute

Bad

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

Unaffected in absence of a second CBS gene mutation