ATRIP ATR interacting protein
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 10 | 90 |
| Likely pathogenic | 2 | 56 |
| Benign | 0 | 63 |
| Likely benign | 0 | 398 |
| Conflicting classifications of pathogenicity | 0 | 50 |
| not provided | 0 | 6 |
| Uncertain significance | 0 | 856 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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189 |
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1,244 |
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12 |
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 | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
Search Word
| Target data | : |
MGeND data only
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| 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
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| Category | : |
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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 |
|---|---|
| MIM | 606605 OMIM |
| HGNC | HGNC:33499 HGNC |
| Ensembl | ENSG00000164053 Ensembl |
| AllianceGenome | HGNC:33499 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000346691.9 | hg38 | chr3 | 48,446,733 | 48,465,655 | 18,923 |
| ENST00000412052.4 | hg38 | chr3 | 48,447,093 | 48,465,716 | 18,624 |
| ENST00000320211.10 | hg38 | chr3 | 48,446,737 | 48,467,645 | 20,909 |
| ENST00000346691.9 | hg19 | chr3 | 48,488,137 | 48,507,054 | 18,918 |
| ENST00000320211.10 | hg19 | chr3 | 48,488,141 | 48,509,044 | 20,904 |
| ENST00000412052.4 | hg19 | chr3 | 48,488,497 | 48,507,115 | 18,619 |
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