chr11:5226643:C>R Detail (hg38) (HBB, LOC106099062, LOC107133510)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:5,247,873-5,247,873 View the variant detail on this assembly version. |
| hg38 | chr11:5,226,643-5,226,643 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000518.4:c.249G>R | NP_000509.1:p.Lys83? |
| Ensemble | ENST00000335295.4:c.249G>R | ENST00000335295.4:p.Lys83? |
| ENST00000485743.1:c.249G>R | ENST00000485743.1:p.Lys83? |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance | Pathogenic; other |
| Review star |  |
| 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 | |
Pathogenic
|
1988-10-01 | no assertion criteria provided | HEMOGLOBIN S (PROVIDENCE) |
germline
|
Detail |
|
Pathogenic
|
1985-01-01 | no assertion criteria provided | Erythrocytosis, familial, 6 |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000518.5(HBB):c.249G>Y (p.Lys83Asn) AND HEMOGLOBIN PROVIDENCE | ClinVar | Detail |
| NM_000518.4(HBB):c.[20A>T;249G>Y] AND HEMOGLOBIN S (PROVIDENCE) | ClinVar | Detail |
| NM_000518.5(HBB):c.249G>Y (p.Lys83Asn) AND Erythrocytosis, familial, 6 | ClinVar | 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
- rs33991993 dbSNP
- Genome
- hg38
- Position
- chr11:5,226,643-5,226,643
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- R
Genome browser