CAPS calcyphosine

Information
Symbol
CAPS
Type
protein-coding
Description
calcyphosine
Entrez Gene ID
828
Genome
hg19
Position
chr19:5,914,265-5,916,222
Genome
hg38
Position
chr19:5,914,254-5,916,211
MIM
114212 OMIM
HGNC
HGNC:1487 HGNC
Ensembl
ENSG00000105519 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 6
Likely benign 0 10
Uncertain significance 0 46
Ranking
ClinVar
0
0
2
60
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 CAPS1
MIM 114212 OMIM
HGNC HGNC:1487 HGNC
Ensembl ENSG00000105519 Ensembl
AllianceGenome HGNC:1487
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000588776.8 hg38 chr19 5,914,254 5,916,211 1,958
ENST00000452990.8 hg38 chr19 5,912,339 5,915,877 3,539
ENST00000452990.8 hg19 chr19 5,912,350 5,915,888 3,539
ENST00000588776.8 hg19 chr19 5,914,265 5,916,222 1,958
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