S1PR2 sphingosine-1-phosphate receptor 2
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 4 |
| Benign | 0 | 34 |
| Likely benign | 0 | 78 |
| Conflicting classifications of pathogenicity | 0 | 10 |
| Uncertain significance | 0 | 90 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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66 |
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122 |
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4 |
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 | |||||||||||
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MGeND data only
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| 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 | AGR16 |
| SYNONYM | DFNB68 |
| SYNONYM | EDG-5 |
| SYNONYM | EDG5 |
| SYNONYM | Gpcr13 |
| SYNONYM | H218 |
| SYNONYM | LPB2 |
| SYNONYM | S1P2 |
| MIM | 605111 OMIM |
| HGNC | HGNC:3169 HGNC |
| Ensembl | ENSG00000267534 Ensembl |
| AllianceGenome | HGNC:3169 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000646641.1 | hg38 | chr19 | 10,221,433 | 10,231,331 | 9,899 |
| ENST00000646641.1 | hg19 | chr19 | 10,332,109 | 10,342,007 | 9,899 |
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