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: | FAM83H |
| 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 |