CTDSP1 CTD small phosphatase 1
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 4 |
Uncertain significance | 0 | 32 |
Ranking
ClinVar | |
---|---|
![]() |
0 |
![]() |
0 |
![]() |
0 |
![]() |
36 |
![]() |
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
|
Category | : |
|
Search word | : | |
Filtering | : |
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
|
Category | : |
|
Search word | : | |
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
|
Category | : |
|
Search word | : | |
Filtering | : |
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 |
Genome browser