CRYBB1 crystallin beta B1

Information
Symbol
CRYBB1
Type
protein-coding
Description
crystallin beta B1
Entrez Gene ID
1414
Genome
hg19
Position
chr22:26,995,242-27,013,991
Genome
hg38
Position
chr22:26,599,278-26,618,027
MIM
600929 OMIM
HGNC
HGNC:2397 HGNC
Ensembl
ENSG00000100122 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 8
Likely pathogenic 0 14
Benign 4 24
Likely benign 0 24
Conflicting classifications of pathogenicity 0 14
Uncertain significance 0 94
Ranking
ClinVar
0
0
28
120
10
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
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 CATCN3
SYNONYM CTRCT17
MIM 600929 OMIM
HGNC HGNC:2397 HGNC
Ensembl ENSG00000100122 Ensembl
AllianceGenome HGNC:2397
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000647684.1 hg38 chr22 26,599,278 26,618,027 18,750
ENST00000647684.1 hg19 chr22 26,995,242 27,013,991 18,750
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