chr11:5248032:A>C Detail (hg19) (HBB, LOC106099062, LOC107133510)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:5,248,032-5,248,032 |
| hg38 | chr11:5,226,802-5,226,802 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000518.4:c.93-3T>G | |
| Ensemble | ENST00000485743.1:c.93-3T>G | |
| ENST00000335295.4:c.93-3T>G |
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
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
|
1989-03-01 | no assertion criteria provided | Beta-plus-thalassemia |
germline
|
Detail |
|
Pathogenic
|
2021-03-25 | no assertion criteria provided | beta thalassemia |
germline
|
Detail |
|
Pathogenic
|
2022-03-02 | criteria provided, single submitter | Beta thalassemia intermedia |
germline
|
Detail |
|
Pathogenic
Likely pathogenic
|
2023-01-24 | criteria provided, multiple submitters, no conflicts | not provided |
germline
unknown
|
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.93-3T>G AND Beta-plus-thalassemia | ClinVar | Detail |
| NM_000518.5(HBB):c.93-3T>G AND beta Thalassemia | ClinVar | Detail |
| NM_000518.5(HBB):c.93-3T>G AND Beta thalassemia intermedia | ClinVar | Detail |
| NM_000518.5(HBB):c.93-3T>G AND not provided | ClinVar | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs34527846 dbSNP
- Genome
- hg19
- Position
- chr11:5,248,032-5,248,032
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- C
- East Asian Chromosome Counts (ExAC)
- 8558
- 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)
- 121026
- 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)
- 8.262687356435807E-6
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