rs139334167

This variant is located in the SPG11 gene.

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ClinVar annotation

Conflicting Classifications
11 submitters7 publications

not provided; Hereditary spastic paraplegia 11; Hereditary spastic paraplegia; Inborn genetic diseases; SPG11-related disorder; not specified

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About SPG11

The protein encoded by this gene is a potential transmembrane protein that is phosphorylated upon DNA damage. Defects in this gene are a cause of spastic paraplegia type 11 (SPG11). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]

View all SPG11 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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