PRDM2 PR/SET domain 2
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely pathogenic | 0 | 2 |
| Benign | 0 | 6 |
| Likely benign | 0 | 20 |
| Uncertain significance | 0 | 192 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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2 |
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216 |
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2 |
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 | |||||||||||
Search Word
| Target data | : |
MGeND data only
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| Filtering | : |
| 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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| Category | : |
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| Filtering | : |
| 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 | HUMHOXY1 |
| SYNONYM | KMT8 |
| SYNONYM | KMT8A |
| SYNONYM | MTB-ZF |
| SYNONYM | RIZ |
| SYNONYM | RIZ1 |
| SYNONYM | RIZ2 |
| MIM | 601196 OMIM |
| HGNC | HGNC:9347 HGNC |
| Ensembl | ENSG00000116731 Ensembl |
| AllianceGenome | HGNC:9347 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000505823.5 | hg38 | chr1 | 13,749,436 | 13,823,419 | 73,984 |
| ENST00000235372.11 | hg38 | chr1 | 13,704,855 | 13,825,079 | 120,225 |
| ENST00000343137.8 | hg38 | chr1 | 13,749,415 | 13,787,657 | 38,243 |
| ENST00000376048.9 | hg38 | chr1 | 13,700,240 | 13,825,065 | 124,826 |
| ENST00000311066.10 | hg38 | chr1 | 13,700,188 | 13,825,079 | 124,892 |
| ENST00000413440.5 | hg38 | chr1 | 13,749,403 | 13,788,079 | 38,677 |
| ENST00000503842.5 | hg38 | chr1 | 13,749,435 | 13,823,499 | 74,065 |
| ENST00000311066.10 | hg19 | chr1 | 14,026,683 | 14,151,574 | 124,892 |
| ENST00000376048.9 | hg19 | chr1 | 14,026,735 | 14,151,560 | 124,826 |
| ENST00000235372.11 | hg19 | chr1 | 14,031,350 | 14,151,574 | 120,225 |
| ENST00000413440.5 | hg19 | chr1 | 14,075,898 | 14,114,574 | 38,677 |
| ENST00000343137.8 | hg19 | chr1 | 14,075,910 | 14,114,152 | 38,243 |
| ENST00000503842.5 | hg19 | chr1 | 14,075,930 | 14,149,994 | 74,065 |
| ENST00000505823.5 | hg19 | chr1 | 14,075,931 | 14,149,914 | 73,984 |
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