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NM_001142.2(AMELX):c.132C>A (p.Ser44Arg) AND Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2

Significance: not provided
ClinVar: RCV000083242

Variant: NM_001142.2(AMELX):c.132C>A (p.Ser44Arg)

Type: Variant
Allele: NM_001142.2(AMELX):c.132C>A (p.Ser44Arg) 102881
Gene:
Type: single nucleotide variant
Location: ChrX: 11298265 - assembly GRCh38
ChrX: 11316385 - assembly GRCh37
References: dbSNP: 431825178

Condition

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