chr11:5227002:TC>AT Detail (hg38) (HBB, LOC106099062, LOC107133510)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:5,248,232-5,248,233 View the variant detail on this assembly version. |
| hg38 | chr11:5,227,002-5,227,003 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000518.4:c.19_20delinsAT | NP_000509.1:p.Glu7Met |
| Ensemble | ENST00000335295.4:c.19_20delinsAT | ENST00000335295.4:p.Glu7Met |
| ENST00000485743.1:c.19_20delinsAT | ENST00000485743.1:p.Glu7Met |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely pathogenic
|
2011-08-18 | criteria provided, single submitter | beta thalassemia |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.672 | beta thalassemia | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000518.5(HBB):c.19_20delinsAT (p.Glu7Met) 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
- rs193922552 dbSNP
- Genome
- hg38
- Position
- chr11:5,227,002-5,227,003
- Variant Type
- snv
- Reference Allele
- TC
- Alternative Allele
- AT
Genome browser