HP haptoglobin
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 14 |
| Likely benign | 0 | 20 |
| Affects | 0 | 4 |
| Uncertain significance | 0 | 44 |
Ranking
| ClinVar | |
|---|---|
![]() |
0 |
![]() |
0 |
![]() |
6 |
![]() |
70 |
![]() |
6 |
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
|
| Category | : |
|
| Search word | : | |
| Filtering | : |
| 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
|
| Category | : |
|
| Search word | : | |
| 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
|
| Category | : |
|
| Search word | : | |
| 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 | BP |
| SYNONYM | HP2ALPHA2 |
| SYNONYM | HPA1S |
| MIM | 140100 OMIM |
| HGNC | HGNC:5141 HGNC |
| Ensembl | ENSG00000257017 Ensembl |
| AllianceGenome | HGNC:5141 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000562526.5 | hg38 | chr16 | 72,054,626 | 72,061,055 | 6,430 |
| ENST00000355906.10 | hg38 | chr16 | 72,054,505 | 72,061,055 | 6,551 |
| ENST00000569639.5 | hg38 | chr16 | 72,054,623 | 72,059,461 | 4,839 |
| ENST00000570083.5 | hg38 | chr16 | 72,054,592 | 72,061,055 | 6,464 |
| ENST00000565574.5 | hg38 | chr16 | 72,054,629 | 72,061,009 | 6,381 |
| ENST00000357763.8 | hg38 | chr16 | 72,054,626 | 72,061,016 | 6,391 |
| ENST00000398131.6 | hg38 | chr16 | 72,054,609 | 72,061,054 | 6,446 |
| ENST00000355906.10 | hg19 | chr16 | 72,088,404 | 72,094,954 | 6,551 |
| ENST00000570083.5 | hg19 | chr16 | 72,088,491 | 72,094,954 | 6,464 |
| ENST00000398131.6 | hg19 | chr16 | 72,088,508 | 72,094,953 | 6,446 |
| ENST00000569639.5 | hg19 | chr16 | 72,088,522 | 72,093,360 | 4,839 |
| ENST00000357763.8 | hg19 | chr16 | 72,088,525 | 72,094,915 | 6,391 |
| ENST00000562526.5 | hg19 | chr16 | 72,088,525 | 72,094,954 | 6,430 |
| ENST00000565574.5 | hg19 | chr16 | 72,088,528 | 72,094,908 | 6,381 |
Genome browser




