CSDE1 cold shock domain containing E1
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 8 |
| Likely pathogenic | 0 | 6 |
| Benign | 0 | 16 |
| Likely benign | 0 | 32 |
| not provided | 2 | 0 |
| Uncertain significance | 1 | 110 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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10 |
![]() |
158 |
![]() |
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
Locus Zoom
Variants
Search Word
| Target data | : |
MGeND data only
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| Category | : |
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| 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
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| Category | : |
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| 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 | : |
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| 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 | D1S155E |
| SYNONYM | UNR |
| MIM | 191510 OMIM |
| HGNC | HGNC:29905 HGNC |
| Ensembl | ENSG00000009307 Ensembl |
| AllianceGenome | HGNC:29905 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000689732.1 | hg38 | chr1 | 114,716,919 | 114,757,933 | 41,015 |
| ENST00000529046.6 | hg38 | chr1 | 114,716,921 | 114,757,987 | 41,067 |
| ENST00000688211.1 | hg38 | chr1 | 114,716,916 | 114,757,983 | 41,068 |
| ENST00000692719.1 | hg38 | chr1 | 114,716,916 | 114,757,987 | 41,072 |
| ENST00000686781.1 | hg38 | chr1 | 114,716,919 | 114,758,003 | 41,085 |
| ENST00000534699.5 | hg38 | chr1 | 114,717,957 | 114,757,982 | 40,026 |
| ENST00000369530.5 | hg38 | chr1 | 114,717,312 | 114,758,003 | 40,692 |
| ENST00000687759.1 | hg38 | chr1 | 114,716,920 | 114,757,976 | 41,057 |
| ENST00000692672.1 | hg38 | chr1 | 114,716,921 | 114,757,985 | 41,065 |
| ENST00000358528.9 | hg38 | chr1 | 114,716,916 | 114,757,984 | 41,069 |
| ENST00000530886.5 | hg38 | chr1 | 114,717,305 | 114,758,027 | 40,723 |
| ENST00000693467.1 | hg38 | chr1 | 114,716,919 | 114,757,964 | 41,046 |
| ENST00000610726.5 | hg38 | chr1 | 114,716,916 | 114,758,014 | 41,099 |
| ENST00000686667.1 | hg38 | chr1 | 114,716,921 | 114,758,003 | 41,083 |
| ENST00000339438.10 | hg38 | chr1 | 114,716,913 | 114,757,983 | 41,071 |
| ENST00000689217.1 | hg38 | chr1 | 114,716,916 | 114,757,969 | 41,054 |
| ENST00000691032.1 | hg38 | chr1 | 114,716,921 | 114,758,003 | 41,083 |
| ENST00000689885.1 | hg38 | chr1 | 114,716,921 | 114,758,003 | 41,083 |
| ENST00000692044.1 | hg38 | chr1 | 114,716,921 | 114,758,005 | 41,085 |
| ENST00000686235.1 | hg38 | chr1 | 114,716,919 | 114,757,983 | 41,065 |
| ENST00000684913.1 | hg38 | chr1 | 114,716,919 | 114,757,984 | 41,066 |
| ENST00000438362.7 | hg38 | chr1 | 114,716,916 | 114,757,983 | 41,068 |
| ENST00000690207.1 | hg38 | chr1 | 114,716,923 | 114,758,003 | 41,081 |
| ENST00000689989.1 | hg38 | chr1 | 114,716,916 | 114,757,933 | 41,018 |
| ENST00000686025.1 | hg38 | chr1 | 114,716,919 | 114,758,003 | 41,085 |
| ENST00000261443.9 | hg38 | chr1 | 114,717,295 | 114,757,974 | 40,680 |
| ENST00000339438.10 | hg19 | chr1 | 115,259,534 | 115,300,604 | 41,071 |
| ENST00000686667.1 | hg19 | chr1 | 115,259,542 | 115,300,624 | 41,083 |
| ENST00000689989.1 | hg19 | chr1 | 115,259,537 | 115,300,554 | 41,018 |
| ENST00000261443.9 | hg19 | chr1 | 115,259,916 | 115,300,595 | 40,680 |
| ENST00000530886.5 | hg19 | chr1 | 115,259,926 | 115,300,648 | 40,723 |
| ENST00000369530.5 | hg19 | chr1 | 115,259,933 | 115,300,624 | 40,692 |
| ENST00000438362.7 | hg19 | chr1 | 115,259,537 | 115,300,604 | 41,068 |
| ENST00000358528.9 | hg19 | chr1 | 115,259,537 | 115,300,605 | 41,069 |
| ENST00000534699.5 | hg19 | chr1 | 115,260,578 | 115,300,603 | 40,026 |
| ENST00000529046.6 | hg19 | chr1 | 115,259,542 | 115,300,608 | 41,067 |
| ENST00000610726.5 | hg19 | chr1 | 115,259,537 | 115,300,635 | 41,099 |
| ENST00000684913.1 | hg19 | chr1 | 115,259,540 | 115,300,605 | 41,066 |
| ENST00000686781.1 | hg19 | chr1 | 115,259,540 | 115,300,624 | 41,085 |
| ENST00000686025.1 | hg19 | chr1 | 115,259,540 | 115,300,624 | 41,085 |
| ENST00000686235.1 | hg19 | chr1 | 115,259,540 | 115,300,604 | 41,065 |
| ENST00000687759.1 | hg19 | chr1 | 115,259,541 | 115,300,597 | 41,057 |
| ENST00000688211.1 | hg19 | chr1 | 115,259,537 | 115,300,604 | 41,068 |
| ENST00000689217.1 | hg19 | chr1 | 115,259,537 | 115,300,590 | 41,054 |
| ENST00000689732.1 | hg19 | chr1 | 115,259,540 | 115,300,554 | 41,015 |
| ENST00000693467.1 | hg19 | chr1 | 115,259,540 | 115,300,585 | 41,046 |
| ENST00000692719.1 | hg19 | chr1 | 115,259,537 | 115,300,608 | 41,072 |
| ENST00000692672.1 | hg19 | chr1 | 115,259,542 | 115,300,606 | 41,065 |
| ENST00000689885.1 | hg19 | chr1 | 115,259,542 | 115,300,624 | 41,083 |
| ENST00000690207.1 | hg19 | chr1 | 115,259,544 | 115,300,624 | 41,081 |
| ENST00000691032.1 | hg19 | chr1 | 115,259,542 | 115,300,624 | 41,083 |
| ENST00000692044.1 | hg19 | chr1 | 115,259,542 | 115,300,626 | 41,085 |
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