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KLF11

Synonyms
FKLF, FKLF1, MODY7, TIEG2, Tieg3
External resources
Summary
The protein encoded by this gene is a zinc finger transcription factor that binds to SP1-like sequences in epsilon- and gamma-globin gene promoters. This binding inhibits cell growth and causes apoptosis. Defects in this gene are a cause of maturity-onset diabetes of the young type 7 (MODY7). Three transcript variants encoding two different isoforms have been found for this gene.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
626
Likely benign
2,019
Benign
920

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on KLF11 gene.

Phenotype class
Patients in 3billion (%)

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