rs886039429

This is a variant in the NFIA gene that changes a arginine to an cysteine.

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ClinVar annotation

Pathogenic★★★☆
7 submitters2 publications

Brain malformations with or without urinary tract defects; Inborn genetic diseases

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About NFIA

This gene encodes a member of the NF1 (nuclear factor 1) family of transcription factors. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

View all NFIA variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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