ADA adenosine deaminase

Information
Symbol
ADA
Type
protein-coding
Description
adenosine deaminase
Entrez Gene ID
100
Genome
hg19
Position
chr20:43,248,163-43,280,340
Genome
hg38
Position
chr20:44,619,522-44,651,699
MIM
608958 OMIM
HGNC
HGNC:186 HGNC
Ensembl
ENSG00000196839 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 18 156
Likely pathogenic 0 178
Benign 0 57
Likely benign 0 630
Conflicting classifications of pathogenicity 0 30
no classification for the single variant 0 6
not provided 1 8
Uncertain significance 0 276
Ranking
ClinVar
0
66
194
971
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 ADA1
MIM 608958 OMIM
HGNC HGNC:186 HGNC
Ensembl ENSG00000196839 Ensembl
AllianceGenome HGNC:186
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000695889.1 hg38 chr20 44,619,522 44,651,703 32,182
ENST00000696082.1 hg38 chr20 44,619,553 44,651,259 31,707
ENST00000696080.1 hg38 chr20 44,619,529 44,651,717 32,189
ENST00000695949.1 hg38 chr20 44,619,522 44,651,728 32,207
ENST00000537820.2 hg38 chr20 44,618,605 44,651,745 33,141
ENST00000696017.1 hg38 chr20 44,619,526 44,651,686 32,161
ENST00000372874.9 hg38 chr20 44,619,522 44,651,699 32,178
ENST00000536076.2 hg38 chr20 44,619,522 44,652,220 32,699
ENST00000695991.1 hg38 chr20 44,619,521 44,651,678 32,158
ENST00000695995.1 hg38 chr20 44,619,522 44,651,678 32,157
ENST00000695993.1 hg38 chr20 44,619,522 44,651,717 32,196
ENST00000696058.1 hg38 chr20 44,619,522 44,651,686 32,165
ENST00000696060.1 hg38 chr20 44,619,522 44,651,734 32,213
ENST00000696064.1 hg38 chr20 44,619,596 44,652,252 32,657
ENST00000696063.1 hg38 chr20 44,619,563 44,651,686 32,124
ENST00000696062.1 hg38 chr20 44,619,522 44,652,215 32,694
ENST00000696061.1 hg38 chr20 44,619,522 44,651,739 32,218
ENST00000695927.1 hg38 chr20 44,619,538 44,651,392 31,855
ENST00000696065.1 hg38 chr20 44,619,656 44,651,915 32,260
ENST00000696077.1 hg38 chr20 44,619,522 44,651,738 32,217
ENST00000696076.1 hg38 chr20 44,619,522 44,651,715 32,194
ENST00000696079.1 hg38 chr20 44,619,525 44,651,678 32,154
ENST00000696078.1 hg38 chr20 44,619,522 44,651,743 32,222
ENST00000537820.2 hg19 chr20 43,247,246 43,280,386 33,141
ENST00000372874.9 hg19 chr20 43,248,163 43,280,340 32,178
ENST00000536076.2 hg19 chr20 43,248,163 43,280,861 32,699
ENST00000695889.1 hg19 chr20 43,248,163 43,280,344 32,182
ENST00000696076.1 hg19 chr20 43,248,163 43,280,356 32,194
ENST00000695993.1 hg19 chr20 43,248,163 43,280,358 32,196
ENST00000695949.1 hg19 chr20 43,248,163 43,280,369 32,207
ENST00000696060.1 hg19 chr20 43,248,163 43,280,375 32,213
ENST00000696077.1 hg19 chr20 43,248,163 43,280,379 32,217
ENST00000696061.1 hg19 chr20 43,248,163 43,280,380 32,218
ENST00000696078.1 hg19 chr20 43,248,163 43,280,384 32,222
ENST00000696062.1 hg19 chr20 43,248,163 43,280,856 32,694
ENST00000695991.1 hg19 chr20 43,248,162 43,280,319 32,158
ENST00000696017.1 hg19 chr20 43,248,167 43,280,327 32,161
ENST00000695995.1 hg19 chr20 43,248,163 43,280,319 32,157
ENST00000695927.1 hg19 chr20 43,248,179 43,280,033 31,855
ENST00000696058.1 hg19 chr20 43,248,163 43,280,327 32,165
ENST00000696079.1 hg19 chr20 43,248,166 43,280,319 32,154
ENST00000696080.1 hg19 chr20 43,248,170 43,280,358 32,189
ENST00000696063.1 hg19 chr20 43,248,204 43,280,327 32,124
ENST00000696064.1 hg19 chr20 43,248,237 43,280,893 32,657
ENST00000696065.1 hg19 chr20 43,248,297 43,280,556 32,260
ENST00000696082.1 hg19 chr20 43,248,194 43,279,900 31,707
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