CRYBA4 crystallin beta A4

Information
Symbol
CRYBA4
Type
protein-coding
Description
crystallin beta A4
Entrez Gene ID
1413
Genome
hg19
Position
chr22:27,017,927-27,026,633
Genome
hg38
Position
chr22:26,621,963-26,630,669
MIM
123631 OMIM
HGNC
HGNC:2396 HGNC
Ensembl
ENSG00000196431 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 6
Likely pathogenic 0 4
Benign 8 54
Likely benign 0 56
Conflicting classifications of pathogenicity 0 2
Uncertain significance 0 50
Ranking
ClinVar
0
0
24
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
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 CTRCT23
SYNONYM CYRBA4
SYNONYM MCOPCT4
MIM 123631 OMIM
HGNC HGNC:2396 HGNC
Ensembl ENSG00000196431 Ensembl
AllianceGenome HGNC:2396
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000354760.4 hg38 chr22 26,621,963 26,630,669 8,707
ENST00000354760.4 hg19 chr22 27,017,927 27,026,633 8,707
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