KLF1 Chromosome 19
KLF transcription factor 1
Upload your DNA to see your personal genotypes for variants in KLF1.
What This Gene Does
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]
Gene Info
Gene Group
"Zinc fingers C2H2-type|KLF transcription factors"
Locus Type
gene with protein product
Location
19p13.13
Ensembl
ENSG00000105610
Associated Conditions (11)
Inborn genetic diseases
Congenital dyserythropoietic anemia type 4
BLOOD GROUP--LUTHERAN INHIBITOR
FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6
Anemia
congenital dyserythropoietic
type IVb
Malignant lymphoma
large B-cell
diffuse
KLF1-related disorder
Key Variants
RS1452811720
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS182276666
Conflicting classifications of pathogenicity
Congenital dyserythropoietic anemia type 4, Congenital dyserythropoietic anemia type 4
Health Risk
RS1970426484
Conflicting classifications of pathogenicity
Health Risk
RS199685739
Conflicting classifications of pathogenicity
Congenital dyserythropoietic anemia type 4, Congenital dyserythropoietic anemia type 4
Health Risk
RS200637478
Conflicting classifications of pathogenicity
Health Risk
RS2145927881
Conflicting classifications of pathogenicity
Congenital dyserythropoietic anemia type 4, Congenital dyserythropoietic anemia type 4
Health Risk
RS483352838
Conflicting classifications of pathogenicity
BLOOD GROUP--LUTHERAN INHIBITOR, FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6, Anemia
Health Risk
RS483352842
Conflicting classifications of pathogenicity
BLOOD GROUP--LUTHERAN INHIBITOR, BLOOD GROUP--LUTHERAN INHIBITOR
Health Risk
RS547785696
Conflicting classifications of pathogenicity
Congenital dyserythropoietic anemia type 4, Inborn genetic diseases, Congenital dyserythropoietic anemia type 4
Health Risk
RS558942739
Conflicting classifications of pathogenicity
BLOOD GROUP--LUTHERAN INHIBITOR, Malignant lymphoma, large B-cell
Health Risk
RS752204035
Conflicting classifications of pathogenicity
Congenital dyserythropoietic anemia type 4, FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6, BLOOD GROUP--LUTHERAN INHIBITOR
Health Risk
RS757861047
Conflicting classifications of pathogenicity
Congenital dyserythropoietic anemia type 4, Congenital dyserythropoietic anemia type 4
Health Risk
All Variants (32)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1452811720 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS182276666 | Health Risk | Conflicting classifications of pathogenicity | Congenital dyserythropoietic anemia type 4, Congenital dyserythropoietic anemia type 4 |
| RS1970426484 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS199685739 | Health Risk | Conflicting classifications of pathogenicity | Congenital dyserythropoietic anemia type 4, Congenital dyserythropoietic anemia type 4 |
| RS200637478 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2145927881 | Health Risk | Conflicting classifications of pathogenicity | Congenital dyserythropoietic anemia type 4, Congenital dyserythropoietic anemia type 4 |
| RS483352838 | Health Risk | Conflicting classifications of pathogenicity | BLOOD GROUP--LUTHERAN INHIBITOR, FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6, Anemia |
| RS483352842 | Health Risk | Conflicting classifications of pathogenicity | BLOOD GROUP--LUTHERAN INHIBITOR, BLOOD GROUP--LUTHERAN INHIBITOR |
| RS547785696 | Health Risk | Conflicting classifications of pathogenicity | Congenital dyserythropoietic anemia type 4, Inborn genetic diseases, Congenital dyserythropoietic anemia type 4 |
| RS558942739 | Health Risk | Conflicting classifications of pathogenicity | BLOOD GROUP--LUTHERAN INHIBITOR, Malignant lymphoma, large B-cell |
| RS752204035 | Health Risk | Conflicting classifications of pathogenicity | Congenital dyserythropoietic anemia type 4, FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6, BLOOD GROUP--LUTHERAN INHIBITOR |
| RS757861047 | Health Risk | Conflicting classifications of pathogenicity | Congenital dyserythropoietic anemia type 4, Congenital dyserythropoietic anemia type 4 |
| RS775669419 | Health Risk | Conflicting classifications of pathogenicity | Congenital dyserythropoietic anemia type 4, Congenital dyserythropoietic anemia type 4 |
| RS886054236 | Health Risk | Conflicting classifications of pathogenicity | Congenital dyserythropoietic anemia type 4, Congenital dyserythropoietic anemia type 4 |
| RS1282233748 | Health Risk | Likely pathogenic | — |
| RS137852688 | Health Risk | Likely pathogenic | BLOOD GROUP--LUTHERAN INHIBITOR, BLOOD GROUP--LUTHERAN INHIBITOR |
| RS2512557956 | Health Risk | Likely pathogenic | — |
| RS483352839 | Health Risk | Likely pathogenic | — |
| RS483352840 | Health Risk | Likely pathogenic | Congenital dyserythropoietic anemia type 4, Congenital dyserythropoietic anemia type 4 |
| RS483352841 | Health Risk | Likely pathogenic | — |
| RS1297604452 | Health Risk | Pathogenic | BLOOD GROUP--LUTHERAN INHIBITOR, BLOOD GROUP--LUTHERAN INHIBITOR |
| RS137852687 | Health Risk | Pathogenic | BLOOD GROUP--LUTHERAN INHIBITOR, BLOOD GROUP--LUTHERAN INHIBITOR |
| RS1568420836 | Health Risk | Pathogenic | BLOOD GROUP--LUTHERAN INHIBITOR, BLOOD GROUP--LUTHERAN INHIBITOR |
| RS1568420988 | Health Risk | Pathogenic | — |
| RS2512555640 | Health Risk | Pathogenic | — |
| RS267607201 | Health Risk | Pathogenic | Congenital dyserythropoietic anemia type 4, BLOOD GROUP--LUTHERAN INHIBITOR, KLF1-related disorder |
| RS387907598 | Health Risk | Pathogenic | Congenital dyserythropoietic anemia type 4, FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6, BLOOD GROUP--LUTHERAN INHIBITOR |
| RS387907599 | Health Risk | Pathogenic | FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6, Congenital dyserythropoietic anemia type 4, BLOOD GROUP--LUTHERAN INHIBITOR |
| RS398122931 | Health Risk | Pathogenic | BLOOD GROUP--LUTHERAN INHIBITOR, BLOOD GROUP--LUTHERAN INHIBITOR |
| RS397514445 | Health Risk | Pathogenic/Likely pathogenic | BLOOD GROUP--LUTHERAN INHIBITOR, FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6, Anemia |
| RS1426116895 | Trait | Affects | BLOOD GROUP--LUTHERAN INHIBITOR, BLOOD GROUP--LUTHERAN INHIBITOR |
| RS267607202 | Trait | Affects | FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6, FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6 |