CTDSP1 CTD small phosphatase 1
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 4 |
| Uncertain significance | 0 | 32 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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0 |
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36 |
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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 | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
Search Word
| Target data | : |
MGeND data only
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| Filtering | : |
| Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
Search Word
| 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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | NIF3 |
| SYNONYM | NLI-IF |
| SYNONYM | NLIIF |
| SYNONYM | SCP1 |
| MIM | 605323 OMIM |
| HGNC | HGNC:21614 HGNC |
| Ensembl | ENSG00000144579 Ensembl |
| AllianceGenome | HGNC:21614 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000710837.1 | hg38 | chr2 | 218,400,017 | 218,405,927 | 5,911 |
| ENST00000710839.1 | hg38 | chr2 | 218,400,631 | 218,405,922 | 5,292 |
| ENST00000464255.2 | hg38 | chr2 | 218,401,168 | 218,404,587 | 3,420 |
| ENST00000710828.1 | hg38 | chr2 | 218,397,136 | 218,405,922 | 8,787 |
| ENST00000443891.6 | hg38 | chr2 | 218,398,338 | 218,404,676 | 6,339 |
| ENST00000428361.6 | hg38 | chr2 | 218,400,308 | 218,404,479 | 4,172 |
| ENST00000488627.6 | hg38 | chr2 | 218,401,062 | 218,404,773 | 3,712 |
| ENST00000452977.6 | hg38 | chr2 | 218,400,091 | 218,405,941 | 5,851 |
| ENST00000273062.7 | hg38 | chr2 | 218,399,868 | 218,405,941 | 6,074 |
| ENST00000273062.7 | hg19 | chr2 | 219,264,591 | 219,270,664 | 6,074 |
| ENST00000428361.6 | hg19 | chr2 | 219,265,031 | 219,269,202 | 4,172 |
| ENST00000443891.6 | hg19 | chr2 | 219,263,061 | 219,269,399 | 6,339 |
| ENST00000452977.6 | hg19 | chr2 | 219,264,814 | 219,270,664 | 5,851 |
| ENST00000464255.2 | hg19 | chr2 | 219,265,891 | 219,269,310 | 3,420 |
| ENST00000488627.6 | hg19 | chr2 | 219,265,785 | 219,269,496 | 3,712 |
| ENST00000710837.1 | hg19 | chr2 | 219,264,740 | 219,270,650 | 5,911 |
| ENST00000710828.1 | hg19 | chr2 | 219,261,859 | 219,270,645 | 8,787 |
| ENST00000710839.1 | hg19 | chr2 | 219,265,354 | 219,270,645 | 5,292 |
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