rs121908462

This is a variant in the ADGRG1 gene that changes a arginine to an tryptophan.

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ClinVar annotation

Pathogenic★☆☆☆
5 submitters16 publications

Abnormality of the nervous system; Bilateral frontoparietal polymicrogyria; Inborn genetic diseases

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About ADGRG1

This gene encodes a member of the G protein-coupled receptor family and regulates brain cortical patterning. The encoded protein binds specifically to transglutaminase 2, a component of tissue and tumor stroma implicated as an inhibitor of tumor progression. Mutations in this gene are associated with a brain malformation known as bilateral frontoparietal polymicrogyria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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