NEIL1 nei like DNA glycosylase 1
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 2 |
| Benign | 0 | 20 |
| Likely benign | 0 | 24 |
| Conflicting classifications of pathogenicity | 0 | 2 |
| not provided | 1 | 0 |
| Uncertain significance | 0 | 72 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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6 |
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104 |
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2 |
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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| 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 | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | FPG1 |
| SYNONYM | NEI1 |
| SYNONYM | hFPG1 |
| MIM | 608844 OMIM |
| HGNC | HGNC:18448 HGNC |
| Ensembl | ENSG00000140398 Ensembl |
| AllianceGenome | HGNC:18448 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000569035.5 | hg38 | chr15 | 75,347,638 | 75,355,247 | 7,610 |
| ENST00000564784.5 | hg38 | chr15 | 75,347,619 | 75,355,251 | 7,633 |
| ENST00000355059.9 | hg38 | chr15 | 75,347,039 | 75,357,115 | 10,077 |
| ENST00000355059.9 | hg19 | chr15 | 75,639,380 | 75,649,456 | 10,077 |
| ENST00000564784.5 | hg19 | chr15 | 75,639,960 | 75,647,592 | 7,633 |
| ENST00000569035.5 | hg19 | chr15 | 75,639,979 | 75,647,588 | 7,610 |
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