NM_001142.2(AMELX):c.131G>A (p.Ser44Asn) AND Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2
| Significance: | not provided |
|---|---|
| ClinVar: | RCV000083241 |
Variant: NM_001142.2(AMELX):c.131G>A (p.Ser44Asn) |
|
| Type: | Variant |
Allele: NM_001142.2(AMELX):c.131G>A (p.Ser44Asn) 102880 |
|
| Gene: | AMELX ARHGAP6 |
| Type: | single nucleotide variant |
| Location: |
ChrX: 11298264
- assembly
GRCh38 ChrX: 11316384 - assembly GRCh37 |
| References: | dbSNP:
431825177 |
Condition |
|
| Disease: | Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2 |