rs200925077
This variant is located in the PCDH1 gene.
▶ClinVar annotation
About PCDH1
This gene belongs to the protocadherin subfamily within the cadherin superfamily. The encoded protein is a membrane protein found at cell-cell boundaries. It is involved in neural cell adhesion, suggesting a possible role in neuronal development. The protein includes an extracelllular region, containing 7 cadherin-like domains, a transmembrane region and a C-terminal cytoplasmic region. Cells expressing the protein showed cell aggregation activity. Alternative splicing occurs in this gene. [provided by RefSeq, Jul 2008]
View all PCDH1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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