chr11:5248232:T>C Detail (hg19) (HBB)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:5,248,232-5,248,232 |
| hg38 | chr11:5,227,002-5,227,002 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000518.4:c.20A>G | NP_000509.1:p.Glu7Gly |
| Ensemble | ENST00000335295.4:c.20A>G | ENST00000335295.4:p.Glu7Gly |
| ENST00000485743.1:c.20A>G | ENST00000485743.1:p.Glu7Gly |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | anemia | Meanwhile, individuals with the hHbS rs334 TT, IL10 rs3024500 AA, and IL17RD rs6... | BeFree | 24312262 | Detail |
| <0.001 | Sickle Cell Trait | The objective was to investigate whether haptoglobin (Hp) haplotypes constructed... | BeFree | 20552021 | Detail |
| 0.120 | Sickle cell-Hemoglobin O Arab disease | NA | CLINVAR | Detail | |
| 0.120 | Malaria, resistance to | NA | CLINVAR | Detail | |
| <0.001 | anemia | Furthermore, IL17RE rs708567 GA and hHbS rs334 AT individuals were associated wi... | BeFree | 24312262 | Detail |
| <0.001 | Sickle Cell Trait | The objective was to investigate whether haptoglobin (Hp) haplotypes constructed... | BeFree | 20552021 | Detail |
| 0.578 | Anemia, Sickle Cell | NA | CLINVAR | Detail | |
| <0.001 | malaria | Furthermore, IL17RE rs708567 GA and hHbS rs334 AT individuals were associated wi... | BeFree | 24312262 | Detail |
| 0.578 | Anemia, Sickle Cell | Gene mutations in human haemoglobin: the chemical difference between normal and ... | UNIPROT | 13464827 | Detail |
| <0.001 | trachoma | The objective was to investigate whether haptoglobin (Hp) haplotypes constructed... | BeFree | 20552021 | Detail |
| 0.099 | anemia | Hb S-São Paulo (SP) [HBB:c.20A>T p.Glu6Val; c.196A>G p.Lys65Glu] is a new ... | BeFree | 22244832 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Meanwhile, individuals with the hHbS rs334 TT, IL10 rs3024500 AA, and IL17RD rs6780995 GA genotypes ... | DisGeNET | Detail |
| The objective was to investigate whether haptoglobin (Hp) haplotypes constructed from the functional... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Furthermore, IL17RE rs708567 GA and hHbS rs334 AT individuals were associated with protection from u... | DisGeNET | Detail |
| The objective was to investigate whether haptoglobin (Hp) haplotypes constructed from the functional... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Furthermore, IL17RE rs708567 GA and hHbS rs334 AT individuals were associated with protection from u... | DisGeNET | Detail |
| Gene mutations in human haemoglobin: the chemical difference between normal and sickle cell haemoglo... | DisGeNET | Detail |
| The objective was to investigate whether haptoglobin (Hp) haplotypes constructed from the functional... | DisGeNET | Detail |
| Hb S-São Paulo (SP) [HBB:c.20A>T p.Glu6Val; c.196A>G p.Lys65Glu] is a new double-mutant hemogl... | 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
- rs334 dbSNP
- Genome
- hg19
- Position
- chr11:5,248,232-5,248,232
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
Genome browser