KLF1 KLF transcription factor 1

Information
Symbol
KLF1
Type
protein-coding
Description
KLF transcription factor 1
Entrez Gene ID
10661
Genome
hg19
Position
chr19:12,995,236-12,998,015
Genome
hg38
Position
chr19:12,884,422-12,887,201
MIM
600599 OMIM
HGNC
HGNC:6345 HGNC
Ensembl
ENSG00000105610 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 24
Likely pathogenic 0 10
Benign 2 36
Likely benign 0 78
Affects 0 4
Conflicting classifications of pathogenicity 0 22
Uncertain significance 0 110
Ranking
ClinVar
0
0
32
200
26
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM EKLF
SYNONYM EKLF/KLF1
MIM 600599 OMIM
HGNC HGNC:6345 HGNC
Ensembl ENSG00000105610 Ensembl
AllianceGenome HGNC:6345
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000264834.6 hg38 chr19 12,884,422 12,887,201 2,780
ENST00000264834.6 hg19 chr19 12,995,236 12,998,015 2,780
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