rs754004382

This variant is located in the GOSR2 gene.

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ClinVar annotation

Uncertain Significance★★★☆
2 submitters4 publications

Progressive myoclonic epilepsy; Muscular dystrophy, congenital, with or without seizures

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About GOSR2

This gene encodes a trafficking membrane protein which transports proteins among the medial- and trans-Golgi compartments. Due to its chromosomal location and trafficking function, this gene may be involved in familial essential hypertension. [provided by RefSeq, Mar 2016]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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