SEPTIN5 septin 5
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 2 |
| Likely benign | 0 | 18 |
| not provided | 14 | 0 |
| Uncertain significance | 0 | 36 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
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0 |
 |
0 |
 |
56 |
 |
0 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
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HGVD
TOMMO
TOMMO
Gene
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Disease area statistics
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Variants
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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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| Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
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| Target data | : |
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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 | CDCREL |
| SYNONYM | CDCREL-1 |
| SYNONYM | CDCREL1 |
| SYNONYM | H5 |
| SYNONYM | HCDCREL-1 |
| SYNONYM | PNUTL1 |
| SYNONYM | SEPT5 |
| SYNONYM | Septin-5 |
| MIM | 602724 OMIM |
| HGNC | HGNC:9164 HGNC |
| Ensembl | ENSG00000184702 Ensembl |
| AllianceGenome | HGNC:9164 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000406395.5 | hg38 | chr22 | 19,714,504 | 19,723,274 | 8,771 |
| ENST00000455784.7 | hg38 | chr22 | 19,714,503 | 19,723,319 | 8,817 |
| ENST00000383045.7 | hg38 | chr22 | 19,718,432 | 19,722,629 | 4,198 |
| ENST00000438754.6 | hg38 | chr22 | 19,718,458 | 19,723,319 | 4,862 |
| ENST00000455784.7 | hg19 | chr22 | 19,702,026 | 19,710,842 | 8,817 |
| ENST00000406395.5 | hg19 | chr22 | 19,702,027 | 19,710,797 | 8,771 |
| ENST00000383045.7 | hg19 | chr22 | 19,705,955 | 19,710,152 | 4,198 |
| ENST00000438754.6 | hg19 | chr22 | 19,705,981 | 19,710,842 | 4,862 |
| Key | Value |
|---|---|
| strand | + |
| start | 19,701,986 |
| Gene Symbol | SEPT5 |
| Entrez GeneId | 5,413 |
| Chr Band | 22q11.21 |
| end | 19,710,844 |
| chr | chr22 |
| Name | septin 5 |
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