IHO1 interactor of HORMAD1 1
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Uncertain significance | 0 | 46 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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0 |
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46 |
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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
[No Data.]
Locus Zoom
Variants
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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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| 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 | CCDC36 |
| SYNONYM | CT74 |
| SYNONYM | LELA1 |
| MIM | 619190 OMIM |
| HGNC | HGNC:27945 HGNC |
| Ensembl | ENSG00000173421 Ensembl |
| AllianceGenome | HGNC:27945 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000438782.5 | hg38 | chr3 | 49,198,887 | 49,258,104 | 59,218 |
| ENST00000296449.9 | hg38 | chr3 | 49,198,428 | 49,257,723 | 59,296 |
| ENST00000452691.7 | hg38 | chr3 | 49,199,498 | 49,258,106 | 58,609 |
| ENST00000366429.2 | hg38 | chr3 | 49,199,510 | 49,245,739 | 46,230 |
| ENST00000296449.9 | hg19 | chr3 | 49,235,861 | 49,295,156 | 59,296 |
| ENST00000438782.5 | hg19 | chr3 | 49,236,320 | 49,295,537 | 59,218 |
| ENST00000452691.7 | hg19 | chr3 | 49,236,931 | 49,295,539 | 58,609 |
| ENST00000366429.2 | hg19 | chr3 | 49,236,943 | 49,283,172 | 46,230 |
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