chr11:5246928:A>G Detail (hg19) (HBB, LOC107133510, LOC110006319)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:5,246,928-5,246,928 |
| hg38 | chr11:5,225,698-5,225,698 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000518.4:c.344T>C | NP_000509.1:p.Leu115Pro |
| Ensemble | ENST00000335295.4:c.344T>C | ENST00000335295.4:p.Leu115Pro |
| ENST00000647020.1:c.344T>C | ENST00000647020.1:p.Leu115Pro |
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
|
2001-02-01 | no assertion criteria provided | Beta thalassemia intermedia |
germline
|
Detail |
other
|
2017-12-12 | no assertion criteria provided |
germline
|
Detail | |
|
other
|
2017-12-12 | no assertion criteria provided |
germline
|
Detail | |
|
Pathogenic
|
2021-03-23 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Pathogenic
|
2023-07-27 | criteria provided, single submitter | Dominant beta-thalassemia |
germline
|
Detail |
|
Pathogenic
|
2017-09-15 | no assertion criteria provided | beta thalassemia |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.244 | Beta thalassemia intermedia | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000518.5(HBB):c.344T>C (p.Leu115Pro) AND Beta thalassemia intermedia | ClinVar | Detail |
| NM_000518.5(HBB):c.344T>C (p.Leu115Pro) AND HEMOGLOBIN BRESCIA | ClinVar | Detail |
| NM_000518.5(HBB):c.344T>C (p.Leu115Pro) AND HEMOGLOBIN DURHAM-N.C. | ClinVar | Detail |
| NM_000518.5(HBB):c.344T>C (p.Leu115Pro) AND not provided | ClinVar | Detail |
| NM_000518.5(HBB):c.344T>C (p.Leu115Pro) AND Dominant beta-thalassemia | ClinVar | Detail |
| NM_000518.5(HBB):c.344T>C (p.Leu115Pro) AND beta Thalassemia | ClinVar | 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
- rs36015961 dbSNP
- Genome
- hg19
- Position
- chr11:5,246,928-5,246,928
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
Genome browser