GENETIC ENCYCLOPEDIA
ABOUT US    

   

NM_198488.4(FAM83H):c.2765G>T (p.Arg922Leu) AND Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2

Significance: not provided
ClinVar: RCV000083244

Variant: NM_198488.4(FAM83H):c.2765G>T (p.Arg922Leu)

Type: Variant
Allele: NM_198488.4(FAM83H):c.2765G>T (p.Arg922Leu) 102883
Gene:
Type: single nucleotide variant
Location: Chr8: 143726696 - assembly GRCh38
Chr8: 144808866 - assembly GRCh37
References: dbSNP: 431825180

Condition

Disease: Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2