rs387907255

This is a variant in the NFIX gene that changes a arginine to an proline.

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ClinVar annotation

Pathogenic
1 submitter1 publication

Malan overgrowth syndrome (MALNS)

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About NFIX

The protein encoded by this gene is a transcription factor that binds the palindromic sequence 5'-TTGGCNNNNNGCCAA-3 in viral and cellular promoters. The encoded protein can also stimulate adenovirus replication in vitro. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2012]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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