chr11:5248224:>C Detail (hg19) (HBB)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:5,248,224-5,248,224 |
| hg38 | chr11:5,226,994-5,226,994 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
[No Data.]
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.287 | alpha-Thalassemia | NA | CLINVAR | Detail | |
| 0.127 | beta^0^ Thalassemia | NA | CLINVAR | Detail | |
| 0.672 | beta thalassemia | NA | CLINVAR | Detail |
Annotation
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
- rs35699606 dbSNP
- Genome
- hg19
- Position
- chr11:5,248,224-5,248,224
- Variant Type
- snv
- Reference Allele
- -
- Alternative Allele
- C
Genome browser