rs2531822260

This variant is located in the PCDHB6 gene.

ClinVar annotation

Uncertain Significance☆☆☆
1 submitter

not specified

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About PCDHB6

This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. Unlike the alpha and gamma clusters, the transcripts from these genes do not share common 3' exons. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell neural connections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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