KHDC4 KH domain containing 4, pre-mRNA splicing factor

Information
Symbol
KHDC4
Type
protein-coding
Description
KH domain containing 4, pre-mRNA splicing factor
Entrez Gene ID
22889
Genome
hg19
Position
chr1:155,882,836-155,904,204
Genome
hg38
Position
chr1:155,913,045-155,934,413
MIM
619370 OMIM
HGNC
HGNC:29145 HGNC
Ensembl
ENSG00000132680 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Uncertain significance 0 50
Ranking
ClinVar
0
0
0
52
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 BLOM7
SYNONYM KIAA0907
SYNONYM SNORA80EHG
MIM 619370 OMIM
HGNC HGNC:29145 HGNC
Ensembl ENSG00000132680 Ensembl
AllianceGenome HGNC:29145
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000368319.3 hg38 chr1 155,921,385 155,934,373 12,989
ENST00000368320.7 hg38 chr1 155,913,045 155,934,399 21,355
ENST00000368321.8 hg38 chr1 155,913,045 155,934,413 21,369
ENST00000368320.7 hg19 chr1 155,882,836 155,904,190 21,355
ENST00000368321.8 hg19 chr1 155,882,836 155,904,204 21,369
ENST00000368319.3 hg19 chr1 155,891,176 155,904,164 12,989
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