rs371925152
This variant is located in the MTMR2 gene.
▶ClinVar annotation
Charcot-Marie-Tooth disease type 4; not provided; Charcot-Marie-Tooth disease type 4B1; Charcot-Marie-Tooth disease; Inborn genetic diseases; not specified
View on ClinVar →About MTMR2
This gene is a member of the myotubularin family of phosphoinositide lipid phosphatases. The encoded protein possesses phosphatase activity towards phosphatidylinositol-3-phosphate and phosphatidylinositol-3,5-bisphosphate. Mutations in this gene are a cause of Charcot-Marie-Tooth disease type 4B, an autosomal recessive demyelinating neuropathy. Alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
View all MTMR2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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