rs780199936
This variant is located in the LEMD3 gene.
▶ClinVar annotation
Uncertain Significance★☆☆☆
1 submitter1 publicationAbout LEMD3
This locus encodes a LEM domain-containing protein. The encoded protein functions to antagonize transforming growth factor-beta signaling at the inner nuclear membrane. Two transcript variants encoding different isoforms have been found for this gene. Mutations in this gene have been associated with osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.[provided by RefSeq, Nov 2009]
View all LEMD3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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