chr11:5248249:C>T Detail (hg19) (HBB, LOC106099062, LOC107133510)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:5,248,249-5,248,249 |
| hg38 | chr11:5,227,019-5,227,019 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000518.4:c.3G>A | NP_000509.1:p.? |
| Ensemble | ENST00000335295.4:c.3G>A | ENST00000335295.4:p.? |
| ENST00000485743.1:c.3G>A | ENST00000485743.1:p.? |
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
|
1993-06-01 | no assertion criteria provided | Beta zero thalassemia |
germline
|
Detail |
|
Pathogenic
|
2017-02-04 | criteria provided, single submitter | not specified |
germline
|
Detail |
|
Pathogenic
|
2017-02-06 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Pathogenic
|
2019-11-25 | no assertion criteria provided | beta thalassemia |
germline
|
Detail |
|
Pathogenic
|
2022-03-21 | criteria provided, single submitter | Dominant beta-thalassemia |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.127 | beta^0^ Thalassemia | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000518.5(HBB):c.3G>A (p.Met1Ile) AND Beta zero thalassemia | ClinVar | Detail |
| NM_000518.5(HBB):c.3G>A (p.Met1Ile) AND not specified | ClinVar | Detail |
| NM_000518.5(HBB):c.3G>A (p.Met1Ile) AND not provided | ClinVar | Detail |
| NM_000518.5(HBB):c.3G>A (p.Met1Ile) AND beta Thalassemia | ClinVar | Detail |
| NM_000518.5(HBB):c.3G>A (p.Met1Ile) AND Dominant 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
- rs33930702 dbSNP
- Genome
- hg19
- Position
- chr11:5,248,249-5,248,249
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser