rs3132554

This variant is located in the CDSN gene.

ClinVar annotation

Benign☆☆☆
1 submitter1 publication
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About CDSN

This gene encodes a protein found in corneodesmosomes, which localize to human epidermis and other cornified squamous epithelia. The encoded protein undergoes a series of cleavages during corneocyte maturation. This gene is highly polymorphic in human populations, and variation has been associated with skin diseases such as psoriasis, hypotrichosis and peeling skin syndrome. The gene is located in the major histocompatibility complex (MHC) class I region on chromosome 6. [provided by RefSeq, Dec 2014]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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