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NM_001142.2(AMELX):c.129G>C (p.Gln43His) AND Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2

Significance: not provided
ClinVar: RCV000083240

Variant: NM_001142.2(AMELX):c.129G>C (p.Gln43His)

Type: Variant
Allele: NM_001142.2(AMELX):c.129G>C (p.Gln43His) 102879
Gene:
Type: single nucleotide variant
Location: ChrX: 11298262 - assembly GRCh38
ChrX: 11316382 - assembly GRCh37
References: dbSNP: 431825176

Condition

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