CTDNEP1 CTD nuclear envelope phosphatase 1
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Uncertain significance | 0 | 6 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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6 |
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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.]
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Variants
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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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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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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 | DULLARD |
SYNONYM | HSA011916 |
SYNONYM | NET56 |
MIM | 610684 OMIM |
HGNC | HGNC:19085 HGNC |
Ensembl | ENSG00000175826 Ensembl |
AllianceGenome | HGNC:19085 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000574322.6 | hg38 | chr17 | 7,243,591 | 7,251,734 | 8,144 |
ENST00000573600.5 | hg38 | chr17 | 7,243,618 | 7,252,081 | 8,464 |
ENST00000572043.5 | hg38 | chr17 | 7,244,039 | 7,252,491 | 8,453 |
ENST00000318988.10 | hg38 | chr17 | 7,243,839 | 7,251,961 | 8,123 |
ENST00000574322.6 | hg19 | chr17 | 7,146,910 | 7,155,053 | 8,144 |
ENST00000573600.5 | hg19 | chr17 | 7,146,937 | 7,155,400 | 8,464 |
ENST00000318988.10 | hg19 | chr17 | 7,147,158 | 7,155,280 | 8,123 |
ENST00000572043.5 | hg19 | chr17 | 7,147,358 | 7,155,810 | 8,453 |
Key | Value |
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strand | - |
start | 7,146,905 |
Gene Symbol | CTDNEP1 |
Entrez GeneId | 23,399 |
Chr Band | 17p13 |
end | 7,155,258 |
chr | chr17 |
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