rs867980189

This variant is located in the KLF1 gene.

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ClinVar annotation

Uncertain Significance★★★☆
2 submitters1 publication

Congenital dyserythropoietic anemia type 4; not provided

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About KLF1

This gene encodes a hematopoietic-specific transcription factor that induces high-level expression of adult beta-globin and other erythroid genes. The zinc-finger protein binds to the DNA sequence CCACACCCT found in the beta hemoglobin promoter. Heterozygous loss-of-function mutations in this gene result in the dominant In(Lu) blood phenotype. [provided by RefSeq, Oct 2009]

View all KLF1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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