rs993687029

This is a stop gained variant in the DONSON gene.

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ClinVar annotation

Pathogenic★☆☆☆

4 submitters6 publications

Inborn genetic diseases; Microcephaly, short stature, and limb abnormalities; Microcephaly-micromelia syndrome

This gene lies downstream of the SON gene and spans 10 kb on chromosome 21. The function of this gene is unknown. [provided by RefSeq, Jul 2008]

Gene information from NCBI Gene. Variant classifications from ClinVar.

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