rs797044911

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

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ClinVar annotation

Pathogenic★☆☆☆
6 submitters9 publications

Inborn genetic diseases; Malan overgrowth syndrome (MALNS); Marshall-Smith syndrome (MRSHSS)

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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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