rs746800707

This is a variant in the AAR2 gene that changes a valine to an methionine.

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ClinVar annotation

Pathogenic

1 submitter

Anteriorly placed anus; Cerebellar malformation; Global developmental delay (DD); Hypoplasia of the corpus callosum; Macule; Microcephaly; Patent foramen ovale; Ventricular septal defect

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About AAR2

This gene encodes the homolog of the yeast A1-alpha2 repressin protein that is involved in mRNA splicing. Alternately spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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