chr11:5225710:A>G Detail (hg38) (HBB, LOC107133510, LOC110006319)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:5,246,940-5,246,940 View the variant detail on this assembly version. |
| hg38 | chr11:5,225,710-5,225,710 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000518.4:c.332T>C | NP_000509.1:p.Leu111Pro |
| Ensemble | ENST00000335295.4:c.332T>C | ENST00000335295.4:p.Leu111Pro |
| ENST00000647020.1:c.332T>C | ENST00000647020.1:p.Leu111Pro |
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 |
|---|---|---|---|---|---|
other
|
2017-12-12 | no assertion criteria provided |
germline
|
Detail | |
|
Pathogenic
|
2005-01-01 | no assertion criteria provided | Beta-plus-thalassemia |
germline
|
Detail |
|
Pathogenic
|
2005-01-01 | no assertion criteria provided | Beta-Showa-Yakushiji thalassemia |
germline
|
Detail |
|
Pathogenic
|
2016-08-26 | criteria provided, single submitter | beta thalassemia |
germline
|
Detail |
|
Pathogenic
|
criteria provided, single submitter | Hb SS disease |
germline
|
Detail | |
|
Pathogenic
|
2023-05-22 | criteria provided, multiple submitters, no conflicts | not provided |
germline
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.120 | beta thalassemia major anemia | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000518.4(HBB):c.332T>C (p.Leu111Pro) AND HEMOGLOBIN SHOWA-YAKUSHIJI | ClinVar | Detail |
| NM_000518.4(HBB):c.332T>C (p.Leu111Pro) AND Beta-plus-thalassemia | ClinVar | Detail |
| NM_000518.4(HBB):c.332T>C (p.Leu111Pro) AND Beta-Showa-Yakushiji thalassemia | ClinVar | Detail |
| NM_000518.4(HBB):c.332T>C (p.Leu111Pro) AND beta Thalassemia | ClinVar | Detail |
| NM_000518.4(HBB):c.332T>C (p.Leu111Pro) AND Hb SS disease | ClinVar | Detail |
| NM_000518.4(HBB):c.332T>C (p.Leu111Pro) AND not provided | 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
- rs35256489 dbSNP
- Genome
- hg38
- Position
- chr11:5,225,710-5,225,710
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- East Asian Chromosome Counts (ExAC)
- 8634
- 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)
- 121382
- 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)
- 8.238453806989504E-6
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