chr11:5225678:C>T Detail (hg38) (HBB, LOC106099062, LOC107133510, LOC110006319)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:5,246,908-5,246,908 View the variant detail on this assembly version. |
| hg38 | chr11:5,225,678-5,225,678 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000518.4:c.364G>A | NP_000509.1:p.Glu122Lys |
| Ensemble | ENST00000335295.4:c.364G>A | ENST00000335295.4:p.Glu122Lys |
| ENST00000647020.1:c.364G>A | ENST00000647020.1:p.Glu122Lys |
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 |
|---|---|---|---|---|---|
other
|
2017-12-12 | no assertion criteria provided |
germline
|
Detail | |
|
other
|
2017-12-12 | no assertion criteria provided |
germline
|
Detail | |
|
Pathogenic
|
1999-04-01 | no assertion criteria provided | Sickle cell-Hemoglobin O Arab disease |
germline
|
Detail |
|
other
|
2017-12-12 | no assertion criteria provided |
germline
|
Detail | |
|
Pathogenic
|
2019-12-17 | criteria provided, single submitter | beta thalassemia |
germline
unknown
|
Detail |
|
Pathogenic
Likely pathogenic
|
2018-05-09 | criteria provided, multiple submitters, no conflicts | Hb SS disease |
germline
|
Detail |
|
Pathogenic
|
2024-01-24 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Pathogenic
|
2016-08-22 | criteria provided, single submitter | Sickle cell-Hemoglobin O Arab disease |
germline
|
Detail |
|
Pathogenic
|
2022-03-25 | criteria provided, single submitter | Hb SS disease,Malaria, susceptibility to,Hereditary persistence of fetal hemoglobin,Heinz body anemia,Beta-thalassemia HBB/LCRB,Dominant beta-thalassemia,alpha thalassemia,Methemoglobinemia, beta-globin type,Erythrocytosis, familial, 6 |
unknown
|
Detail |
|
Pathogenic
|
2022-03-25 | criteria provided, single submitter | Hb SS disease,Malaria, susceptibility to,Hereditary persistence of fetal hemoglobin,Heinz body anemia,Beta-thalassemia HBB/LCRB,Dominant beta-thalassemia,alpha thalassemia,Methemoglobinemia, beta-globin type,Erythrocytosis, familial, 6 |
unknown
|
Detail |
|
Pathogenic
|
2022-03-25 | criteria provided, single submitter | Hb SS disease,Malaria, susceptibility to,Hereditary persistence of fetal hemoglobin,Heinz body anemia,Beta-thalassemia HBB/LCRB,Dominant beta-thalassemia,alpha thalassemia,Methemoglobinemia, beta-globin type,Erythrocytosis, familial, 6 |
unknown
|
Detail |
|
Pathogenic
|
2022-03-25 | criteria provided, single submitter | Hb SS disease,Malaria, susceptibility to,Hereditary persistence of fetal hemoglobin,Heinz body anemia,Beta-thalassemia HBB/LCRB,Dominant beta-thalassemia,alpha thalassemia,Methemoglobinemia, beta-globin type,Erythrocytosis, familial, 6 |
unknown
|
Detail |
|
Pathogenic
|
2022-03-25 | criteria provided, single submitter | Hb SS disease,Malaria, susceptibility to,Hereditary persistence of fetal hemoglobin,Heinz body anemia,Beta-thalassemia HBB/LCRB,Dominant beta-thalassemia,alpha thalassemia,Methemoglobinemia, beta-globin type,Erythrocytosis, familial, 6 |
unknown
|
Detail |
|
Pathogenic
|
2022-03-25 | criteria provided, single submitter | Hb SS disease,Malaria, susceptibility to,Hereditary persistence of fetal hemoglobin,Heinz body anemia,Beta-thalassemia HBB/LCRB,Dominant beta-thalassemia,alpha thalassemia,Methemoglobinemia, beta-globin type,Erythrocytosis, familial, 6 |
unknown
|
Detail |
|
Pathogenic
|
2022-03-25 | criteria provided, single submitter | Hb SS disease,Malaria, susceptibility to,Hereditary persistence of fetal hemoglobin,Heinz body anemia,Beta-thalassemia HBB/LCRB,Dominant beta-thalassemia,alpha thalassemia,Methemoglobinemia, beta-globin type,Erythrocytosis, familial, 6 |
unknown
|
Detail |
|
Pathogenic
|
2022-03-25 | criteria provided, single submitter | Hb SS disease,Malaria, susceptibility to,Hereditary persistence of fetal hemoglobin,Heinz body anemia,Beta-thalassemia HBB/LCRB,Dominant beta-thalassemia,alpha thalassemia,Methemoglobinemia, beta-globin type,Erythrocytosis, familial, 6 |
unknown
|
Detail |
|
Pathogenic
|
2022-03-25 | criteria provided, single submitter | Hb SS disease,Malaria, susceptibility to,Hereditary persistence of fetal hemoglobin,Heinz body anemia,Beta-thalassemia HBB/LCRB,Dominant beta-thalassemia,alpha thalassemia,Methemoglobinemia, beta-globin type,Erythrocytosis, familial, 6 |
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.672 | beta thalassemia | NA | CLINVAR | Detail | |
| 0.360 | Beta Thalassemia, Dominant Inclusion Body Type | NA | CLINVAR | Detail | |
| 0.120 | Sickle cell-Hemoglobin O Arab disease | NA | CLINVAR | Detail | |
| 0.578 | Anemia, Sickle Cell | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000518.4(HBB):c.364G>A (p.Glu122Lys) AND HEMOGLOBIN O (ARAB) | ClinVar | Detail |
| NM_000518.4(HBB):c.364G>A (p.Glu122Lys) AND HEMOGLOBIN EGYPT | ClinVar | Detail |
| NM_000518.4(HBB):c.[20A>T;364G>A] AND Sickle cell-Hemoglobin O Arab disease | ClinVar | Detail |
| NM_000518.4(HBB):c.[34G>A;364G>A] AND HEMOGLOBIN O (TIBESTI) | ClinVar | Detail |
| NM_000518.4(HBB):c.364G>A (p.Glu122Lys) AND beta Thalassemia | ClinVar | Detail |
| NM_000518.4(HBB):c.364G>A (p.Glu122Lys) AND Hb SS disease | ClinVar | Detail |
| NM_000518.4(HBB):c.364G>A (p.Glu122Lys) AND not provided | ClinVar | Detail |
| NM_000518.4(HBB):c.364G>A (p.Glu122Lys) AND Sickle cell-Hemoglobin O Arab disease | ClinVar | Detail |
| NM_000518.4(HBB):c.364G>A (p.Glu122Lys) AND multiple conditions | ClinVar | Detail |
| NM_000518.4(HBB):c.364G>A (p.Glu122Lys) AND multiple conditions | ClinVar | Detail |
| NM_000518.4(HBB):c.364G>A (p.Glu122Lys) AND multiple conditions | ClinVar | Detail |
| NM_000518.4(HBB):c.364G>A (p.Glu122Lys) AND multiple conditions | ClinVar | Detail |
| NM_000518.4(HBB):c.364G>A (p.Glu122Lys) AND multiple conditions | ClinVar | Detail |
| NM_000518.4(HBB):c.364G>A (p.Glu122Lys) AND multiple conditions | ClinVar | Detail |
| NM_000518.4(HBB):c.364G>A (p.Glu122Lys) AND multiple conditions | ClinVar | Detail |
| NM_000518.4(HBB):c.364G>A (p.Glu122Lys) AND multiple conditions | ClinVar | Detail |
| NM_000518.4(HBB):c.364G>A (p.Glu122Lys) AND multiple conditions | ClinVar | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | 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
- rs33946267 dbSNP
- Genome
- hg38
- Position
- chr11:5,225,678-5,225,678
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8636
- 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)
- 121384
- 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)
- 8.238318064983852E-6
Genome browser