rs1057519337
This is a variant in the AMMECR1 gene that changes a glycine to an aspartate.
▶ClinVar annotation
Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis (MFHIEN)
View on ClinVar →About AMMECR1
The exact function of this gene is not known, however, submicroscopic deletion of the X chromosome including this gene, COL4A5, and FACL4 genes, result in a contiguous gene deletion syndrome, the AMME complex (Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]
View all AMMECR1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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