CRYGD crystallin gamma D
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 14 |
Likely pathogenic | 0 | 16 |
Benign | 16 | 50 |
Likely benign | 0 | 22 |
Conflicting classifications of pathogenicity | 0 | 8 |
Uncertain significance | 0 | 58 |
Ranking
ClinVar | |
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0 |
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0 |
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36 |
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106 |
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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
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Variants
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MGeND data only
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Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
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MGeND data only
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Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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SYNONYM | CACA |
SYNONYM | CCA3 |
SYNONYM | CCP |
SYNONYM | CRYG4 |
SYNONYM | CTRCT4 |
SYNONYM | PCC |
SYNONYM | cry-g-D |
MIM | 123690 OMIM |
HGNC | HGNC:2411 HGNC |
Ensembl | ENSG00000118231 Ensembl |
AllianceGenome | HGNC:2411 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000264376.5 | hg38 | chr2 | 208,121,607 | 208,124,524 | 2,918 |
ENST00000264376.5 | hg19 | chr2 | 208,986,331 | 208,989,248 | 2,918 |
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