KLHL40 kelch like family member 40

Information
Symbol
KLHL40
Type
protein-coding
Description
kelch like family member 40
Entrez Gene ID
131377
Genome
hg19
Position
chr3:42,727,029-42,734,036
Genome
hg38
Position
chr3:42,685,537-42,692,544
MIM
615340 OMIM
HGNC
HGNC:30372 HGNC
Ensembl
ENSG00000157119 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 6 46
Likely pathogenic 21 32
Benign 0 54
Likely benign 0 314
Conflicting classifications of pathogenicity 0 20
Uncertain significance 0 522
Ranking
ClinVar
0
0
170
772
6
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 KBTBD5
SYNONYM NEM8
SYNONYM SRYP
SYNONYM SYRP
MIM 615340 OMIM
HGNC HGNC:30372 HGNC
Ensembl ENSG00000157119 Ensembl
AllianceGenome HGNC:30372
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000287777.5 hg38 chr3 42,685,537 42,692,544 7,008
ENST00000287777.5 hg19 chr3 42,727,029 42,734,036 7,008
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