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 | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
Search Word
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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Category | : |
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Search word | : | |
Filtering | : |
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 | FPG1 |
SYNONYM | NEI1 |
SYNONYM | hFPG1 |
MIM | 608844 OMIM |
HGNC | HGNC:18448 HGNC |
Ensembl | ENSG00000140398 Ensembl |
AllianceGenome | HGNC:18448 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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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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