rs121912626

This is a variant in the CRELD1 gene that changes a proline to an alanine.

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ClinVar annotation

Risk Factor
1 submitter1 publication

Atrioventricular septal defect, susceptibility to, 2

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About CRELD1

This gene encodes a member of a subfamily of epidermal growth factor-related proteins. The encoded protein is characterized by a cysteine-rich with epidermal growth factor-like domain. This protein may function as a cell adhesion molecule. Mutations in this gene are the cause of atrioventricular septal defect. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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