KIAA0040 KIAA0040

Information
Symbol
KIAA0040
Type
protein-coding
Description
KIAA0040
Entrez Gene ID
9674
Genome
hg19
Position
chr1:175,126,122-175,161,912
Genome
hg38
Position
chr1:175,156,986-175,192,776
MIM
616696 OMIM
HGNC
HGNC:28950 HGNC
Ensembl
ENSG00000235750 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 12
Ranking
ClinVar
0
0
0
14
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
MIM 616696 OMIM
HGNC HGNC:28950 HGNC
Ensembl ENSG00000235750 Ensembl
AllianceGenome HGNC:28950
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000619513.1 hg38 chr1 175,156,987 175,166,741 9,755
ENST00000545251.6 hg38 chr1 175,158,953 175,192,754 33,802
ENST00000423313.6 hg38 chr1 175,156,986 175,192,776 35,791
ENST00000444639.5 hg38 chr1 175,156,987 175,192,943 35,957
ENST00000423313.6 hg19 chr1 175,126,122 175,161,912 35,791
ENST00000619513.1 hg19 chr1 175,126,123 175,135,877 9,755
ENST00000444639.5 hg19 chr1 175,126,123 175,162,079 35,957
ENST00000545251.6 hg19 chr1 175,128,089 175,161,890 33,802
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