chr11:5246892:A>C Detail (hg19) (HBB, LOC107133510, LOC110006319)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:5,246,892-5,246,892 |
| hg38 | chr11:5,225,662-5,225,662 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000518.4:c.380T>G | NP_000509.1:p.Val127Gly |
| Ensemble | ENST00000335295.4:c.380T>G | ENST00000335295.4:p.Val127Gly |
| ENST00000647020.1:c.380T>G | ENST00000647020.1:p.Val127Gly |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Pathogenic
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2004-01-01 | no assertion criteria provided | hemoglobinopathy |
germline
|
Detail |
|
Pathogenic
|
2018-04-18 | criteria provided, single submitter | beta thalassemia |
germline
unknown
|
Detail |
|
Pathogenic
Likely pathogenic
|
2023-11-22 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Pathogenic
|
2021-12-01 | criteria provided, single submitter | Beta thalassemia intermedia |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.263 | Hemoglobinopathies | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000518.5(HBB):c.380T>G (p.Val127Gly) AND Hemoglobinopathy | ClinVar | Detail |
| NM_000518.5(HBB):c.380T>G (p.Val127Gly) AND beta Thalassemia | ClinVar | Detail |
| NM_000518.5(HBB):c.380T>G (p.Val127Gly) AND not provided | ClinVar | Detail |
| NM_000518.5(HBB):c.380T>G (p.Val127Gly) AND Beta thalassemia intermedia | 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
- rs33925391 dbSNP
- Genome
- hg19
- Position
- chr11:5,246,892-5,246,892
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- C
Genome browser