rs2482212715

This variant is located in the LMBRD1 gene.

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ClinVar annotation

Likely Benign★☆☆☆

1 submitter1 publication

Methylmalonic aciduria and homocystinuria type cblF

About LMBRD1

This gene encodes a lysosomal membrane protein that may be involved in the transport and metabolism of cobalamin. This protein also interacts with the large form of the hepatitis delta antigen and may be required for the nucleocytoplasmic shuttling of the hepatitis delta virus. Mutations in this gene are associated with the vitamin B12 metabolism disorder termed, homocystinuria-megaloblastic anemia complementation type F.[provided by RefSeq, Oct 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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