GENETIC ENCYCLOPEDIA
ABOUT US
disease: Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2
id
289
name
Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2
variant-disease
NM_001142.2(AMELX):c.129G>C (p.Gln43His) AND Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2
NM_001142.2(AMELX):c.131G>A (p.Ser44Asn) AND Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2
NM_001142.2(AMELX):c.132C>A (p.Ser44Arg) AND Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2
NM_198488.4(FAM83H):c.2765G>T (p.Arg922Leu) AND Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2
NM_198488.4(FAM83H):c.2250C>T (p.Gly750=) AND Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2
... 1 more