ADA2 adenosine deaminase 2
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 100 |
Likely pathogenic | 0 | 56 |
Benign | 0 | 86 |
Likely benign | 0 | 292 |
Conflicting classifications of pathogenicity | 0 | 28 |
Uncertain significance | 0 | 440 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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242 |
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684 |
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16 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
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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MGeND data only
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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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Target data | : |
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 | ADGF |
SYNONYM | CECR1 |
SYNONYM | IDGFL |
SYNONYM | PAN |
SYNONYM | SNEDS |
SYNONYM | VAIHS |
MIM | 607575 OMIM |
HGNC | HGNC:1839 HGNC |
Ensembl | ENSG00000093072 Ensembl |
AllianceGenome | HGNC:1839 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000449907.8 | hg38 | chr22 | 17,179,305 | 17,222,101 | 42,797 |
ENST00000649540.1 | hg38 | chr22 | 17,181,087 | 17,219,434 | 38,348 |
ENST00000649746.2 | hg38 | chr22 | 17,178,790 | 17,258,235 | 79,446 |
ENST00000330232.9 | hg38 | chr22 | 17,179,302 | 17,199,783 | 20,482 |
ENST00000399839.5 | hg38 | chr22 | 17,179,304 | 17,221,989 | 42,686 |
ENST00000399837.8 | hg38 | chr22 | 17,178,790 | 17,219,435 | 40,646 |
ENST00000696227.1 | hg38 | chr22 | 17,203,192 | 17,219,423 | 16,232 |
ENST00000696226.1 | hg38 | chr22 | 17,202,714 | 17,219,424 | 16,711 |
ENST00000696225.1 | hg38 | chr22 | 17,178,790 | 17,219,435 | 40,646 |
ENST00000696224.1 | hg38 | chr22 | 17,178,790 | 17,199,783 | 20,994 |
ENST00000696197.1 | hg38 | chr22 | 17,178,790 | 17,230,289 | 51,500 |
ENST00000696196.1 | hg38 | chr22 | 17,178,790 | 17,219,435 | 40,646 |
ENST00000262607.3 | hg38 | chr22 | 17,179,306 | 17,209,889 | 30,584 |
ENST00000649310.2 | hg38 | chr22 | 17,178,790 | 17,258,235 | 79,446 |
ENST00000610390.5 | hg38 | chr22 | 17,178,790 | 17,219,435 | 40,646 |
ENST00000543038.2 | hg38 | chr22 | 17,179,302 | 17,219,435 | 40,134 |
ENST00000262607.3 | hg19 | chr22 | 17,660,196 | 17,690,779 | 30,584 |
ENST00000330232.9 | hg19 | chr22 | 17,660,192 | 17,680,673 | 20,482 |
ENST00000399839.5 | hg19 | chr22 | 17,660,194 | 17,702,879 | 42,686 |
ENST00000449907.8 | hg19 | chr22 | 17,660,195 | 17,702,991 | 42,797 |
ENST00000543038.2 | hg19 | chr22 | 17,660,192 | 17,700,325 | 40,134 |
ENST00000649540.1 | hg19 | chr22 | 17,661,977 | 17,700,324 | 38,348 |
ENST00000649746.2 | hg19 | chr22 | 17,659,680 | 17,739,125 | 79,446 |
ENST00000649310.2 | hg19 | chr22 | 17,659,680 | 17,739,125 | 79,446 |
ENST00000696197.1 | hg19 | chr22 | 17,659,680 | 17,711,179 | 51,500 |
ENST00000696225.1 | hg19 | chr22 | 17,659,680 | 17,700,325 | 40,646 |
ENST00000696196.1 | hg19 | chr22 | 17,659,680 | 17,700,325 | 40,646 |
ENST00000610390.5 | hg19 | chr22 | 17,659,680 | 17,700,325 | 40,646 |
ENST00000399837.8 | hg19 | chr22 | 17,659,680 | 17,700,325 | 40,646 |
ENST00000696224.1 | hg19 | chr22 | 17,659,680 | 17,680,673 | 20,994 |
ENST00000696226.1 | hg19 | chr22 | 17,683,604 | 17,700,314 | 16,711 |
ENST00000696227.1 | hg19 | chr22 | 17,684,082 | 17,700,313 | 16,232 |
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