chr11:5247873:C> Detail (hg19) (HBB, LOC106099062, LOC107133510)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:5,247,873-5,247,873 |
| hg38 | chr11:5,226,643-5,226,643 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000518.4:c.249delG | NP_000509.1:p.Gly84AlafsTer6 |
| Ensemble | ENST00000647020.1:c.249delG | ENST00000647020.1:p.Gly84AlafsTer6 |
| ENST00000335295.4:c.249delG | ENST00000335295.4:p.Gly84AlafsTer6 |
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 |
|---|---|---|---|---|---|
Pathogenic
|
2017-05-24 | criteria provided, single submitter | beta thalassemia |
germline
unknown
|
Detail |
|
Pathogenic
|
2023-12-27 | criteria provided, multiple submitters, no conflicts | not provided |
germline
unknown
|
Detail |
|
Pathogenic
|
2022-06-03 | criteria provided, single submitter | Beta-thalassemia HBB/LCRB |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.672 | beta thalassemia | NA | CLINVAR | Detail | |
| 0.120 | beta thalassemia major anemia | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000518.5(HBB):c.251del (p.Gly84fs) AND beta Thalassemia | ClinVar | Detail |
| NM_000518.5(HBB):c.251del (p.Gly84fs) AND not provided | ClinVar | Detail |
| NM_000518.5(HBB):c.251del (p.Gly84fs) AND Beta-thalassemia HBB/LCRB | ClinVar | 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
- rs193922555 dbSNP
- Genome
- hg19
- Position
- chr11:5,247,873-5,247,873
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- -
Genome browser