rs779803447

This is a variant in the DONSON gene that changes a phenylalanine to an leucine.

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ClinVar annotation

Pathogenic★☆☆☆

2 submitters3 publications

Microcephaly, short stature, and limb abnormalities

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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