chr11:5226943:C>A Detail (hg38) (HBB, LOC106099062, LOC107133510)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:5,248,173-5,248,173 View the variant detail on this assembly version. |
| hg38 | chr11:5,226,943-5,226,943 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000518.4:c.79G>T | NP_000509.1:p.Glu27Ter |
| Ensemble | ENST00000335295.4:c.79G>T | ENST00000335295.4:p.Glu27Ter |
| ENST00000485743.1:c.79G>T | ENST00000485743.1:p.Glu27Ter |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
2023-08-21 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Pathogenic
|
2018-06-04 | criteria provided, single submitter | beta thalassemia |
germline
unknown
|
Detail |
|
Pathogenic
|
2017-12-14 | criteria provided, single submitter | hemoglobinopathy |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.120 | Malaria, resistance to | NA | CLINVAR | Detail | |
| 0.578 | Anemia, Sickle Cell | NA | CLINVAR | Detail | |
| 0.263 | Hemoglobinopathies | Hemoglobin E (E26K variant of beta-globin gene) causing hemoglobinopathy is comm... | BeFree | 19230568 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000518.5(HBB):c.79G>T (p.Glu27Ter) AND not provided | ClinVar | Detail |
| NM_000518.5(HBB):c.79G>T (p.Glu27Ter) AND beta Thalassemia | ClinVar | Detail |
| NM_000518.5(HBB):c.79G>T (p.Glu27Ter) AND Hemoglobinopathy | ClinVar | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Hemoglobin E (E26K variant of beta-globin gene) causing hemoglobinopathy is commonly observed in par... | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs33950507 dbSNP
- Genome
- hg38
- Position
- chr11:5,226,943-5,226,943
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
Genome browser