rs781089161
This variant is located in the DDHD2 gene.
▶ClinVar annotation
About DDHD2
This gene encodes a phospholipase enzyme containing sterile-alpha-motif (SAM), WWE, and DDHD domains. This protein participates in membrane trafficking between the endoplastic reticulum and the Golgi body. Mutations in this gene can cause autosomal recessive spastic paraplegia 54. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
View all DDHD2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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