rs273585631

This is a synonymous variant in the ZNF469 gene — it does not change the protein's amino acid sequence.

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ClinVar annotation

Pathogenic★☆☆☆
4 submitters1 publication

Cardiovascular phenotype; Keratoconus 1 (KTCN1); not specified

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About ZNF469

This gene encodes a zinc-finger protein. Low-percent homology to certain collagens suggests that it may function as a transcription factor or extra-nuclear regulator factor for the synthesis or organization of collagen fibers. Mutations in this gene cause brittle cornea syndrome. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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