KIAA0753 KIAA0753
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 4 | 46 |
| Likely pathogenic | 0 | 28 |
| Benign | 0 | 124 |
| Likely benign | 0 | 278 |
| Conflicting classifications of pathogenicity | 0 | 12 |
| Uncertain significance | 0 | 348 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
128 |
 |
662 |
 |
8 |
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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| 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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| 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 | JBTS38 |
| SYNONYM | MNR |
| SYNONYM | OFIP |
| SYNONYM | SRTD21 |
| MIM | 617112 OMIM |
| HGNC | HGNC:29110 HGNC |
| Ensembl | ENSG00000198920 Ensembl |
| AllianceGenome | HGNC:29110 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000572370.5 | hg38 | chr17 | 6,579,389 | 6,640,711 | 61,323 |
| ENST00000361413.8 | hg38 | chr17 | 6,578,147 | 6,640,711 | 62,565 |
| ENST00000361413.8 | hg19 | chr17 | 6,481,467 | 6,544,031 | 62,565 |
| ENST00000572370.5 | hg19 | chr17 | 6,482,709 | 6,544,031 | 61,323 |
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