IZUMO3 IZUMO family member 3
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely benign | 0 | 4 |
| not provided | 1 | 0 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
 |
0 |
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4 |
 |
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
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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 | C9orf134 |
| SYNONYM | bA20A20.1 |
| MIM | 618896 OMIM |
| HGNC | HGNC:31421 HGNC |
| Ensembl | ENSG00000205442 Ensembl |
| AllianceGenome | HGNC:31421 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000543880.7 | hg38 | chr9 | 24,542,952 | 24,545,897 | 2,946 |
| ENST00000604921.5 | hg38 | chr9 | 24,543,215 | 24,545,676 | 2,462 |
| ENST00000543880.7 | hg19 | chr9 | 24,542,950 | 24,545,895 | 2,946 |
| ENST00000604921.5 | hg19 | chr9 | 24,543,213 | 24,545,674 | 2,462 |
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