rs1554853028

This variant is located in the EGR2 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆
1 submitter1 publication

Dejerine-Sottas disease; Charcot-Marie-Tooth disease type 4E; Charcot-Marie-Tooth disease type 1D

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About EGR2

The protein encoded by this gene is a transcription factor with three tandem C2H2-type zinc fingers. Defects in this gene are associated with Charcot-Marie-Tooth disease type 1D (CMT1D), Charcot-Marie-Tooth disease type 4E (CMT4E), and with Dejerine-Sottas syndrome (DSS). Multiple transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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