rs750022919

This variant is located in the AMMECR1 gene.

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ClinVar annotation

Pathogenic★☆☆☆
2 submitters4 publications

Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis

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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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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