chr11:5226774:G>C Detail (hg38) (HBB, LOC106099062, LOC107133510)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:5,248,004-5,248,004 View the variant detail on this assembly version. |
| hg38 | chr11:5,226,774-5,226,774 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000518.4:c.118C>G | NP_000509.1:p.Gln40Glu |
| Ensemble | ENST00000335295.4:c.118C>G | ENST00000335295.4:p.Gln40Glu |
| ENST00000485743.1:c.118C>G | ENST00000485743.1:p.Gln40Glu |
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 |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.672 | beta thalassemia | This was documented in FH patients identified on the island of Sardinia, in Ital... | BeFree | 15630628 | Detail |
| 0.672 | beta thalassemia | In this population, a single mutation of beta-globin gene (Q39X, beta(0) 39) acc... | BeFree | 10634824 | Detail |
| 0.287 | alpha-Thalassemia | NA | CLINVAR | Detail | |
| 0.065 | thalassemia | This was documented in FH patients identified on the island of Sardinia, in Ital... | BeFree | 15630628 | Detail |
| 0.127 | beta^0^ Thalassemia | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000518.5(HBB):c.118C>G (p.Gln40Glu) AND HEMOGLOBIN VAASA | ClinVar | Detail |
| This was documented in FH patients identified on the island of Sardinia, in Italy, where 12% of the ... | DisGeNET | Detail |
| In this population, a single mutation of beta-globin gene (Q39X, beta(0) 39) accounts for >95% of... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| This was documented in FH patients identified on the island of Sardinia, in Italy, where 12% of the ... | 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
- -
- Genome
- hg38
- Position
- chr11:5,226,774-5,226,774
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
Genome browser