CRIPT CXXC repeat containing interactor of PDZ3 domain

Information
Symbol
CRIPT
Type
protein-coding
Description
CXXC repeat containing interactor of PDZ3 domain
Entrez Gene ID
9419
Genome
hg19
Position
chr2:46,844,354-46,857,315
Genome
hg38
Position
chr2:46,617,215-46,630,176
MIM
604594 OMIM
HGNC
HGNC:14312 HGNC
Ensembl
ENSG00000119878 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 12
Likely pathogenic 0 6
Benign 0 22
Likely benign 0 40
Uncertain significance 0 48
Ranking
ClinVar
0
0
8
114
6
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
SYNONYM HSPC139
SYNONYM RTS3
SYNONYM SSMDF
MIM 604594 OMIM
HGNC HGNC:14312 HGNC
Ensembl ENSG00000119878 Ensembl
AllianceGenome HGNC:14312
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000238892.4 hg38 chr2 46,617,215 46,630,176 12,962
ENST00000238892.4 hg19 chr2 46,844,354 46,857,315 12,962
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