CASKIN2 CASK interacting protein 2

Information
Symbol
CASKIN2
Type
protein-coding
Description
CASK interacting protein 2
Entrez Gene ID
57513
Genome
hg19
Position
chr17:73,496,342-73,511,618
Genome
hg38
Position
chr17:75,500,261-75,515,537
MIM
612185 OMIM
HGNC
HGNC:18200 HGNC
Ensembl
ENSG00000177303 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 2
Uncertain significance 0 222
Ranking
ClinVar
0
0
0
226
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 :
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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 :
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 ANKS5B
MIM 612185 OMIM
HGNC HGNC:18200 HGNC
Ensembl ENSG00000177303 Ensembl
AllianceGenome HGNC:18200
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000581870.1 hg38 chr17 75,505,319 75,515,440 10,122
ENST00000321617.8 hg38 chr17 75,500,261 75,515,537 15,277
ENST00000433559.6 hg38 chr17 75,500,809 75,509,888 9,080
ENST00000321617.8 hg19 chr17 73,496,342 73,511,618 15,277
ENST00000433559.6 hg19 chr17 73,496,890 73,505,969 9,080
ENST00000581870.1 hg19 chr17 73,501,400 73,511,521 10,122
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