KLHDC3 kelch domain containing 3

Information
Symbol
KLHDC3
Type
protein-coding
Description
kelch domain containing 3
Entrez Gene ID
116138
Genome
hg19
Position
chr6:42,981,987-42,989,032
Genome
hg38
Position
chr6:43,014,249-43,021,294
MIM
611248 OMIM
HGNC
HGNC:20704 HGNC
Ensembl
ENSG00000124702 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 20
Ranking
ClinVar
0
0
0
22
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 :
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 PEAS
SYNONYM dJ20C7.3
MIM 611248 OMIM
HGNC HGNC:20704 HGNC
Ensembl ENSG00000124702 Ensembl
AllianceGenome HGNC:20704
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000244670.12 hg38 chr6 43,014,103 43,021,298 7,196
ENST00000326974.9 hg38 chr6 43,014,249 43,021,294 7,046
ENST00000244670.12 hg19 chr6 42,981,841 42,989,036 7,196
ENST00000326974.9 hg19 chr6 42,981,987 42,989,032 7,046
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