NM_003937.2(KYNU):c.592A>G (p.Thr198Ala) | 8942 | KYNU | Pathogenic | 606231307 | RCV000148021; | N | MedGen:C0268474,OMIM:236800,ORPHA:79155,SNOMED CT:17820009,SNOMED CT:33116002,SNOMED CT:72945002 | 2 | 143718202 | 143718202 | NM_003937.2:c.592A>G | NP_003928.1:p.Thr198Ala | NC_000002.11:g.143718202A>G | OMIM Allelic Variant:605197.0001 | C0268474 236800 Hydroxykynureninuria; C1867439 178200 Pterygium antecubital | | |