rs200201752
This is a variant in the NHLRC1 gene that changes a aspartate to an glycine.
▶ClinVar annotation
About NHLRC1
The protein encoded by this gene is a single subunit E3 ubiquitin ligase. Laforin is polyubiquitinated by the encoded protein. Defects in this intronless gene lead to an accumulation of laforin and onset of Lafora disease, also known as progressive myoclonic epilepsy type 2 (EPM2).[provided by RefSeq, Mar 2010]
View all NHLRC1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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