chr11:5248250:A>C Detail (hg19) (HBB, LOC106099062, LOC107133510)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:5,248,250-5,248,250 |
| hg38 | chr11:5,227,020-5,227,020 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000518.4:c.2T>G | NP_000509.1:p.? |
| Ensemble | ENST00000647020.1:c.2T>G | ENST00000647020.1:p.? |
| ENST00000335295.4:c.2T>G | ENST00000335295.4:p.? |
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
|
1992-06-01 | no assertion criteria provided | Beta zero thalassemia |
germline
|
Detail |
|
Pathogenic
|
2023-09-01 | criteria provided, multiple submitters, no conflicts | not provided |
germline
unknown
|
Detail |
|
Pathogenic
|
2020-07-14 | criteria provided, multiple submitters, no conflicts | beta thalassemia |
germline
unknown
|
Detail |
|
Pathogenic
|
criteria provided, single submitter | Hb SS disease |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.127 | beta^0^ Thalassemia | NA | CLINVAR | Detail | |
| 0.672 | beta thalassemia | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000518.5(HBB):c.2T>G (p.Met1Arg) AND Beta zero thalassemia | ClinVar | Detail |
| NM_000518.5(HBB):c.2T>G (p.Met1Arg) AND not provided | ClinVar | Detail |
| NM_000518.5(HBB):c.2T>G (p.Met1Arg) AND beta Thalassemia | ClinVar | Detail |
| NM_000518.5(HBB):c.2T>G (p.Met1Arg) AND Hb SS disease | 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
- rs33941849 dbSNP
- Genome
- hg19
- Position
- chr11:5,248,250-5,248,250
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- C
Genome browser