rs104893646

This is a variant in the MYCN gene that changes a arginine to an histidine.

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ClinVar annotation

Pathogenic★☆☆☆

6 submitters5 publications

Feingold syndrome; Feingold syndrome type 1 (FGLDS1)

About MYCN

This gene is a member of the MYC family and encodes a protein with a basic helix-loop-helix (bHLH) domain. This protein is located in the nucleus and must dimerize with another bHLH protein in order to bind DNA. Amplification of this gene is associated with a variety of tumors, most notably neuroblastomas. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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