chr11:5248193:T>C Detail (hg19) (HBB, LOC106099062, LOC107133510)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:5,248,193-5,248,193 |
| hg38 | chr11:5,226,963-5,226,963 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000518.4:c.59A>G | NP_000509.1:p.Asn20Ser |
| Ensemble | ENST00000335295.4:c.59A>G | ENST00000335295.4:p.Asn20Ser |
| ENST00000485743.1:c.59A>G | ENST00000485743.1:p.Asn20Ser |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | 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
|
1989-05-01 | no assertion criteria provided | Beta-plus-thalassemia |
germline
|
Detail |
|
Pathogenic
|
1989-05-01 | no assertion criteria provided | Beta-Malay-thalassemia |
germline
|
Detail |
|
Pathogenic
|
2017-03-20 | criteria provided, single submitter | beta thalassemia |
germline
|
Detail |
|
Pathogenic
|
2021-08-25 | criteria provided, multiple submitters, no conflicts | not provided |
germline
unknown
|
Detail |
|
Pathogenic
|
2019-05-02 | criteria provided, single submitter | not specified |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.287 | alpha-Thalassemia | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000518.5(HBB):c.59A>G (p.Asn20Ser) AND HEMOGLOBIN MALAY | ClinVar | Detail |
| NM_000518.5(HBB):c.59A>G (p.Asn20Ser) AND Beta-plus-thalassemia | ClinVar | Detail |
| NM_000518.5(HBB):c.59A>G (p.Asn20Ser) AND Beta-Malay-thalassemia | ClinVar | Detail |
| NM_000518.5(HBB):c.59A>G (p.Asn20Ser) AND beta Thalassemia | ClinVar | Detail |
| NM_000518.5(HBB):c.59A>G (p.Asn20Ser) AND not provided | ClinVar | Detail |
| NM_000518.5(HBB):c.59A>G (p.Asn20Ser) 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
- rs33972047 dbSNP
- Genome
- hg19
- Position
- chr11:5,248,193-5,248,193
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
Genome browser