KLHL30 kelch like family member 30

Information
Symbol
KLHL30
Type
protein-coding
Description
kelch like family member 30
Entrez Gene ID
377007
Genome
hg19
Position
chr2:239,047,309-239,061,588
Genome
hg38
Position
chr2:238,138,668-238,152,947
HGNC
HGNC:24770 HGNC
Ensembl
ENSG00000168427 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 12
Uncertain significance 0 120
Ranking
ClinVar
0
0
0
132
0
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 :
Search word :
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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 :
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
HGNC HGNC:24770 HGNC
Ensembl ENSG00000168427 Ensembl
AllianceGenome HGNC:24770
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000409223.2 hg38 chr2 238,138,668 238,152,947 14,280
ENST00000409223.2 hg19 chr2 239,047,309 239,061,588 14,280
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