rs80338699

This is a variant in the CDAN1 gene that changes a proline to an leucine.

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ClinVar annotation

Pathogenic★★★☆
8 submitters13 publications

Anemia, congenital dyserythropoietic, type 1a (CDAN1A); Congenital dyserythropoietic anemia, type I

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About CDAN1

This gene encodes a protein that appears to play a role in nuclear envelope integrity, possibly related to microtubule attachments. Mutations in this gene cause congenital dyserythropoietic anemia type I, a disease resulting in morphological and functional abnormalities of erythropoiesis. [provided by RefSeq, Jul 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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