SPRED1 sprouty related EVH1 domain containing 1
Information
- Symbol
- SPRED1
- Type
- protein-coding
- Description
- sprouty related EVH1 domain containing 1
- Entrez Gene ID
- 161742
- Genome
- hg19
- Position
- chr15:38,545,037-38,649,450
- Genome
- hg38
- Position
- chr15:38,252,836-38,357,249
- MIM
- 609291 OMIM
- HGNC
- HGNC:20249 HGNC
- Ensembl
- ENSG00000166068 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 6 | 176 |
| Likely pathogenic | 2 | 74 |
| Benign | 6 | 116 |
| Likely benign | 0 | 404 |
| Conflicting classifications of pathogenicity | 0 | 70 |
| Uncertain significance | 0 | 752 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
310 |
 |
1,150 |
 |
18 |
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 | : |
|
| 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 | LGSS |
| SYNONYM | NFLS |
| SYNONYM | PPP1R147 |
| SYNONYM | hSpred1 |
| SYNONYM | spred-1 |
| MIM | 609291 OMIM |
| HGNC | HGNC:20249 HGNC |
| Ensembl | ENSG00000166068 Ensembl |
| AllianceGenome | HGNC:20249 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000299084.9 | hg38 | chr15 | 38,252,836 | 38,357,249 | 104,414 |
| ENST00000299084.9 | hg19 | chr15 | 38,545,037 | 38,649,450 | 104,414 |
| Key | Value |
|---|---|
| strand | + |
| start | 38,545,051 |
| Gene Symbol | SPRED1 |
| Entrez GeneId | 161,742 |
| Chr Band | 15q14 |
| end | 38,649,449 |
| chr | chr15 |
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