NAV2 neuron navigator 2
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 74 |
Likely benign | 0 | 48 |
not provided | 2 | 0 |
Uncertain significance | 0 | 332 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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26 |
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422 |
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0 |
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 | HELAD1 |
SYNONYM | POMFIL2 |
SYNONYM | RAINB1 |
SYNONYM | STEERIN2 |
SYNONYM | UNC53H2 |
MIM | 607026 OMIM |
HGNC | HGNC:15997 HGNC |
Ensembl | ENSG00000166833 Ensembl |
AllianceGenome | HGNC:15997 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000360655.8 | hg38 | chr11 | 19,350,724 | 20,121,598 | 770,875 |
ENST00000396085.6 | hg38 | chr11 | 19,712,837 | 20,121,601 | 408,765 |
ENST00000349880.9 | hg38 | chr11 | 19,712,837 | 20,121,601 | 408,765 |
ENST00000396087.7 | hg38 | chr11 | 19,713,597 | 20,118,574 | 404,978 |
ENST00000533917.5 | hg38 | chr11 | 20,022,556 | 20,118,603 | 96,048 |
ENST00000360655.8 | hg19 | chr11 | 19,372,271 | 20,143,144 | 770,874 |
ENST00000396085.6 | hg19 | chr11 | 19,734,383 | 20,143,147 | 408,765 |
ENST00000349880.9 | hg19 | chr11 | 19,734,383 | 20,143,147 | 408,765 |
ENST00000396087.7 | hg19 | chr11 | 19,735,143 | 20,140,120 | 404,978 |
ENST00000533917.5 | hg19 | chr11 | 20,044,102 | 20,140,149 | 96,048 |
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