PNCK pregnancy up-regulated nonubiquitous CaM kinase

Information
Symbol
PNCK
Type
protein-coding
Description
pregnancy up-regulated nonubiquitous CaM kinase
Entrez Gene ID
139728
Genome
hg19
Position
chrX:152,935,475-152,939,816
Genome
hg38
Position
chrX:153,670,020-153,674,361
MIM
300680 OMIM
HGNC
HGNC:13415 HGNC
Ensembl
ENSG00000130822 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 4
Likely benign 0 10
not provided 6 0
Uncertain significance 0 18
Ranking
ClinVar
0
0
0
32
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
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
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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 :
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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 BSTK3
SYNONYM CaMK1b
MIM 300680 OMIM
HGNC HGNC:13415 HGNC
Ensembl ENSG00000130822 Ensembl
AllianceGenome HGNC:13415
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000340888.8 hg38 chrX 153,669,733 153,673,813 4,081
ENST00000370150.5 hg38 chrX 153,669,733 153,673,693 3,961
ENST00000447676.6 hg38 chrX 153,670,020 153,674,361 4,342
ENST00000370142.5 hg38 chrX 153,669,768 153,674,325 4,558
ENST00000370145.8 hg38 chrX 153,669,784 153,673,288 3,505
ENST00000340888.8 hg19 chrX 152,935,188 152,939,268 4,081
ENST00000370142.5 hg19 chrX 152,935,223 152,939,780 4,558
ENST00000370145.8 hg19 chrX 152,935,239 152,938,743 3,505
ENST00000370150.5 hg19 chrX 152,935,188 152,939,148 3,961
ENST00000447676.6 hg19 chrX 152,935,475 152,939,816 4,342
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