CAMSAP3 calmodulin regulated spectrin associated protein family member 3

Information
Symbol
CAMSAP3
Type
protein-coding
Description
calmodulin regulated spectrin associated protein family member 3
Entrez Gene ID
57662
Genome
hg19
Position
chr19:7,660,788-7,683,190
Genome
hg38
Position
chr19:7,595,902-7,618,304
MIM
612685 OMIM
HGNC
HGNC:29307 HGNC
Ensembl
ENSG00000076826 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 12
Likely benign 0 6
Uncertain significance 0 132
Ranking
ClinVar
0
0
0
150
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 :
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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 KIAA1543
SYNONYM NEZHA
SYNONYM PPP1R80
MIM 612685 OMIM
HGNC HGNC:29307 HGNC
Ensembl ENSG00000076826 Ensembl
AllianceGenome HGNC:29307
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000446248.4 hg38 chr19 7,595,902 7,618,304 22,403
ENST00000160298.9 hg38 chr19 7,595,863 7,618,304 22,442
ENST00000160298.9 hg19 chr19 7,660,749 7,683,190 22,442
ENST00000446248.4 hg19 chr19 7,660,788 7,683,190 22,403
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