NOL3 nucleolar protein 3
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 6 |
Likely benign | 0 | 16 |
Conflicting classifications of pathogenicity | 0 | 2 |
Uncertain significance | 0 | 42 |
Ranking
ClinVar | |
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0 |
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64 |
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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
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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 |
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Target data | : |
MGeND data only
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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 | ARC |
SYNONYM | FCM |
SYNONYM | MYOCL1 |
SYNONYM | MYP |
SYNONYM | NOP |
SYNONYM | NOP30 |
MIM | 605235 OMIM |
HGNC | HGNC:7869 HGNC |
Ensembl | ENSG00000140939 Ensembl |
AllianceGenome | HGNC:7869 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000564053.5 | hg38 | chr16 | 67,170,540 | 67,175,485 | 4,946 |
ENST00000564992.2 | hg38 | chr16 | 67,170,538 | 67,175,737 | 5,200 |
ENST00000568146.1 | hg38 | chr16 | 67,174,002 | 67,175,735 | 1,734 |
ENST00000564992.2 | hg19 | chr16 | 67,204,441 | 67,209,640 | 5,200 |
ENST00000564053.5 | hg19 | chr16 | 67,204,443 | 67,209,388 | 4,946 |
ENST00000568146.1 | hg19 | chr16 | 67,207,905 | 67,209,638 | 1,734 |
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