KLHL17 kelch like family member 17

Information
Symbol
KLHL17
Type
protein-coding
Description
kelch like family member 17
Entrez Gene ID
339451
Genome
hg19
Position
chr1:895,964-901,099
Genome
hg38
Position
chr1:960,584-965,719
MIM
619262 OMIM
HGNC
HGNC:24023 HGNC
Ensembl
ENSG00000187961 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely pathogenic 0 2
Benign 0 16
Likely benign 0 14
Uncertain significance 0 118
Ranking
ClinVar
0
0
2
146
2
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
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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 :
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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 AF
MIM 619262 OMIM
HGNC HGNC:24023 HGNC
Ensembl ENSG00000187961 Ensembl
AllianceGenome HGNC:24023
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000338591.8 hg38 chr1 960,584 965,719 5,136
ENST00000338591.8 hg19 chr1 895,964 901,099 5,136
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