NPAS1 neuronal PAS domain protein 1
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely benign | 0 | 2 |
Uncertain significance | 0 | 60 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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62 |
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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
[No Data.]
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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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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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 | MOP5 |
SYNONYM | PASD5 |
SYNONYM | bHLHe11 |
MIM | 603346 OMIM |
HGNC | HGNC:7894 HGNC |
Ensembl | ENSG00000130751 Ensembl |
AllianceGenome | HGNC:7894 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000449844.6 | hg38 | chr19 | 47,020,886 | 47,045,759 | 24,874 |
ENST00000439365.6 | hg38 | chr19 | 47,035,329 | 47,045,758 | 10,430 |
ENST00000602212.6 | hg38 | chr19 | 47,019,837 | 47,045,775 | 25,939 |
ENST00000602189.5 | hg38 | chr19 | 47,019,849 | 47,045,727 | 25,879 |
ENST00000602212.6 | hg19 | chr19 | 47,523,094 | 47,549,033 | 25,940 |
ENST00000602189.5 | hg19 | chr19 | 47,523,106 | 47,548,985 | 25,880 |
ENST00000449844.6 | hg19 | chr19 | 47,524,143 | 47,549,017 | 24,875 |
ENST00000439365.6 | hg19 | chr19 | 47,538,587 | 47,549,016 | 10,430 |
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