CRYAA crystallin alpha A

Information
Symbol
CRYAA
Type
protein-coding
Description
crystallin alpha A
Entrez Gene ID
1409
Genome
hg19
Position
chr21:44,589,118-44,592,915
Genome
hg38
Position
chr21:43,169,008-43,172,805
MIM
123580 OMIM
HGNC
HGNC:2388 HGNC
Ensembl
ENSG00000160202 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 20
Likely pathogenic 1 8
Benign 0 30
Likely benign 0 46
Conflicting classifications of pathogenicity 0 4
Uncertain significance 0 72
Ranking
ClinVar
0
0
38
130
2
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 CRYA1
SYNONYM CTRCT9
SYNONYM HSPB4
MIM 123580 OMIM
HGNC HGNC:2388 HGNC
Ensembl ENSG00000160202 Ensembl
AllianceGenome HGNC:2388
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000291554.6 hg38 chr21 43,169,008 43,172,805 3,798
ENST00000398132.1 hg38 chr21 43,170,156 43,172,519 2,364
ENST00000398133.5 hg38 chr21 43,169,601 43,172,294 2,694
ENST00000291554.6 hg19 chr21 44,589,118 44,592,915 3,798
ENST00000398133.5 hg19 chr21 44,589,711 44,592,404 2,694
ENST00000398132.1 hg19 chr21 44,590,266 44,592,629 2,364
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