rs104894738

This is a variant in the AMELX gene that changes a tryptophan to an serine.

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ClinVar annotation

Pathogenic
1 submitter1 publication

Amelogenesis imperfecta type 1E

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About AMELX

This gene encodes a member of the amelogenin family of extracellular matrix proteins. Amelogenins are involved in biomineralization during tooth enamel development. Mutations in this gene cause X-linked amelogenesis imperfecta. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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