chr11:5246908:C>A Detail (hg19) (HBB, LOC107133510, LOC110006319)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:5,246,908-5,246,908 |
| hg38 | chr11:5,225,678-5,225,678 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000518.4:c.364G>T | NP_000509.1:p.Glu122Ter |
| Ensemble | ENST00000335295.4:c.364G>T | ENST00000335295.4:p.Glu122Ter |
| ENST00000647020.1:c.364G>T | ENST00000647020.1:p.Glu122Ter |
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
|
2022-05-06 | criteria provided, single submitter | Dominant beta-thalassemia |
germline
|
Detail |
|
Pathogenic
|
2023-05-01 | criteria provided, multiple submitters, no conflicts | not provided |
germline
unknown
|
Detail |
|
Pathogenic
|
2020-01-22 | no assertion criteria provided | beta thalassemia |
germline
unknown
|
Detail |
|
Pathogenic
|
criteria provided, single submitter | Hb SS disease |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.672 | beta thalassemia | NA | CLINVAR | Detail | |
| 0.360 | Beta Thalassemia, Dominant Inclusion Body Type | NA | CLINVAR | Detail | |
| 0.120 | Sickle cell-Hemoglobin O Arab disease | NA | CLINVAR | Detail | |
| 0.578 | Anemia, Sickle Cell | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000518.5(HBB):c.364G>T (p.Glu122Ter) AND Dominant beta-thalassemia | ClinVar | Detail |
| NM_000518.5(HBB):c.364G>T (p.Glu122Ter) AND not provided | ClinVar | Detail |
| NM_000518.5(HBB):c.364G>T (p.Glu122Ter) AND beta Thalassemia | ClinVar | Detail |
| NM_000518.5(HBB):c.364G>T (p.Glu122Ter) AND Hb SS disease | ClinVar | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | 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
- rs33946267 dbSNP
- Genome
- hg19
- Position
- chr11:5,246,908-5,246,908
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
Genome browser