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
Locus Zoom
Variants
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| Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
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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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
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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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| 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 |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| 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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