rs369918947
This variant is located in the ADGRG1 gene.
▶ClinVar annotation
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]
View all ADGRG1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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