CRYBB3 crystallin beta B3

Information
Symbol
CRYBB3
Type
protein-coding
Description
crystallin beta B3
Entrez Gene ID
1417
Genome
hg19
Position
chr22:25,595,825-25,603,326
Genome
hg38
Position
chr22:25,199,858-25,207,359
MIM
123630 OMIM
HGNC
HGNC:2400 HGNC
Ensembl
ENSG00000100053 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 6
Likely pathogenic 0 4
Benign 0 36
Likely benign 0 36
Conflicting classifications of pathogenicity 0 20
Uncertain significance 0 100
Ranking
ClinVar
0
0
36
130
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 CATCN2
SYNONYM CRYB3
SYNONYM CTRCT22
MIM 123630 OMIM
HGNC HGNC:2400 HGNC
Ensembl ENSG00000100053 Ensembl
AllianceGenome HGNC:2400
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000404334.1 hg38 chr22 25,199,873 25,207,267 7,395
ENST00000215855.7 hg38 chr22 25,199,858 25,207,359 7,502
ENST00000215855.7 hg19 chr22 25,595,825 25,603,326 7,502
ENST00000404334.1 hg19 chr22 25,595,840 25,603,234 7,395
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