chr11:5247851:C>T Detail (hg19) (HBB, LOC106099062, LOC107133510)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:5,247,851-5,247,851 |
| hg38 | chr11:5,226,621-5,226,621 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000518.4:c.271G>A | NP_000509.1:p.Glu91Lys |
| Ensemble | ENST00000647020.1:c.271G>A | ENST00000647020.1:p.Glu91Lys |
| ENST00000485743.1:c.271G>A | ENST00000485743.1:p.Glu91Lys |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Uncertain significance
|
| 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
|
2004-05-01 | no assertion criteria provided | HEMOGLOBIN S (CAMEROON) |
germline
|
Detail |
|
Uncertain significance
|
2017-11-06 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Uncertain significance
|
2020-08-11 | no assertion criteria provided | beta thalassemia |
germline
|
Detail |
|
Uncertain significance
|
2023-01-16 | criteria provided, single submitter | not specified |
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_000518.4(HBB):c.271G>A (p.Glu91Lys) AND HEMOGLOBIN AGENOGI | ClinVar | Detail |
| NM_000518.4(HBB):c.[20A>T;271G>A] AND HEMOGLOBIN S (CAMEROON) | ClinVar | Detail |
| NM_000518.4(HBB):c.271G>A (p.Glu91Lys) AND not provided | ClinVar | Detail |
| NM_000518.4(HBB):c.271G>A (p.Glu91Lys) AND beta Thalassemia | ClinVar | Detail |
| NM_000518.4(HBB):c.271G>A (p.Glu91Lys) AND not specified | 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
- rs33913712 dbSNP
- Genome
- hg19
- Position
- chr11:5,247,851-5,247,851
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser