RHCE Rh blood group CcEe antigens
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 8 |
| Benign | 0 | 8 |
| Likely benign | 0 | 12 |
| Affects | 0 | 2 |
| no classification for the single variant | 0 | 4 |
| not provided | 0 | 4 |
| Uncertain significance | 0 | 28 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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0 |
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48 |
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10 |
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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| 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 | CD240CE |
| SYNONYM | RH |
| SYNONYM | RH30A |
| SYNONYM | RHC |
| SYNONYM | RHCe(152N) |
| SYNONYM | RHE |
| SYNONYM | RHIXB |
| SYNONYM | RHNA |
| SYNONYM | RHPI |
| SYNONYM | Rh4 |
| SYNONYM | RhIVb(J) |
| SYNONYM | RhVI |
| SYNONYM | RhVIII |
| SYNONYM | SLC42A4 |
| MIM | 111700 OMIM |
| HGNC | HGNC:10008 HGNC |
| Ensembl | ENSG00000188672 Ensembl |
| AllianceGenome | HGNC:10008 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000413854.5 | hg38 | chr1 | 25,362,523 | 25,420,806 | 58,284 |
| ENST00000346452.8 | hg38 | chr1 | 25,362,363 | 25,420,792 | 58,430 |
| ENST00000294413.13 | hg38 | chr1 | 25,362,249 | 25,420,825 | 58,577 |
| ENST00000349438.8 | hg38 | chr1 | 25,362,431 | 25,420,805 | 58,375 |
| ENST00000340849.8 | hg38 | chr1 | 25,362,308 | 25,420,795 | 58,488 |
| ENST00000349320.7 | hg38 | chr1 | 25,362,312 | 25,430,192 | 67,881 |
| ENST00000294413.13 | hg19 | chr1 | 25,688,740 | 25,747,316 | 58,577 |
| ENST00000340849.8 | hg19 | chr1 | 25,688,799 | 25,747,286 | 58,488 |
| ENST00000349320.7 | hg19 | chr1 | 25,688,803 | 25,756,683 | 67,881 |
| ENST00000346452.8 | hg19 | chr1 | 25,688,854 | 25,747,283 | 58,430 |
| ENST00000349438.8 | hg19 | chr1 | 25,688,922 | 25,747,296 | 58,375 |
| ENST00000413854.5 | hg19 | chr1 | 25,689,014 | 25,747,297 | 58,284 |
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