ADAT3 adenosine deaminase tRNA specific 3
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 6 | 4 |
Likely pathogenic | 0 | 4 |
Benign | 0 | 16 |
Likely benign | 0 | 30 |
Conflicting classifications of pathogenicity | 0 | 12 |
Uncertain significance | 1 | 150 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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36 |
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160 |
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4 |
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
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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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Target data | : |
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 |
Search Word
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 | FWP005 |
SYNONYM | MRT36 |
SYNONYM | MST121 |
SYNONYM | MSTP121 |
SYNONYM | NEDBGF |
SYNONYM | S863-5 |
SYNONYM | TAD3 |
MIM | 615302 OMIM |
HGNC | HGNC:25151 HGNC |
Ensembl | ENSG00000213638 Ensembl |
AllianceGenome | HGNC:25151 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000329478.4 | hg38 | chr19 | 1,905,399 | 1,913,447 | 8,049 |
ENST00000329478.4 | hg19 | chr19 | 1,905,398 | 1,913,446 | 8,049 |
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