chr11:5248030:C>G Detail (hg19) (HBB, LOC106099062, LOC107133510)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:5,248,030-5,248,030 |
| hg38 | chr11:5,226,800-5,226,800 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000518.4:c.93-1G>C | |
| Ensemble | ENST00000335295.4:c.93-1G>C | |
| ENST00000485743.1:c.93-1G>C |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance |
Pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
1992-05-01 | no assertion criteria provided | Beta zero thalassemia |
germline
|
Detail |
|
Pathogenic
|
2022-12-16 | criteria provided, multiple submitters, no conflicts | not provided |
germline
unknown
|
Detail |
|
Pathogenic
|
2019-11-25 | no assertion criteria provided | beta thalassemia |
germline
|
Detail |
|
Pathogenic
|
2021-04-01 | criteria provided, single submitter | beta-thalassemia major |
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.93-1G>C AND Beta zero thalassemia | ClinVar | Detail |
| NM_000518.5(HBB):c.93-1G>C AND not provided | ClinVar | Detail |
| NM_000518.5(HBB):c.93-1G>C AND beta Thalassemia | ClinVar | Detail |
| NM_000518.5(HBB):c.93-1G>C AND Beta-thalassemia major | ClinVar | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs33943001 dbSNP
- Genome
- hg19
- Position
- chr11:5,248,030-5,248,030
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
- East Asian Chromosome Counts (ExAC)
- 8574
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 121234
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.248511143738554E-6
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