chr11:5226615:G>A Detail (hg38) (HBB, LOC106099062, LOC107133510)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:5,247,845-5,247,845 View the variant detail on this assembly version. |
| hg38 | chr11:5,226,615-5,226,615 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000518.4:c.277C>T | NP_000509.1:p.His93Tyr |
| Ensemble | ENST00000335295.4:c.277C>T | ENST00000335295.4:p.His93Tyr |
| ENST00000485743.1:c.277C>T | ENST00000485743.1:p.His93Tyr |
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
|
2018-05-10 | no assertion criteria provided |
germline
|
Detail | |
|
other
|
2018-05-10 | no assertion criteria provided |
germline
|
Detail | |
|
other
|
2018-05-10 | no assertion criteria provided |
germline
|
Detail | |
Pathogenic
|
1998-01-01 | no assertion criteria provided | Methemoglobinemia, beta-globin type |
germline
|
Detail |
|
Pathogenic
|
2023-03-14 | criteria provided, single submitter | not provided |
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.263 | Hemoglobinopathies | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000518.4(HBB):c.277C>T (p.His93Tyr) AND HEMOGLOBIN M (MILWAUKEE 2) | ClinVar | Detail |
| NM_000518.4(HBB):c.277C>T (p.His93Tyr) AND HEMOGLOBIN M (HYDE PARK) | ClinVar | Detail |
| NM_000518.4(HBB):c.277C>T (p.His93Tyr) AND HEMOGLOBIN M (AKITA) | ClinVar | Detail |
| NM_000518.4(HBB):c.277C>T (p.His93Tyr) AND Methemoglobinemia, beta-globin type | ClinVar | Detail |
| NM_000518.4(HBB):c.277C>T (p.His93Tyr) AND not provided | 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
- rs33924775 dbSNP
- Genome
- hg38
- Position
- chr11:5,226,615-5,226,615
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser