chr11:5247836:T>C Detail (hg19) (HBB, LOC106099062, LOC107133510)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:5,247,836-5,247,836 |
| hg38 | chr11:5,226,606-5,226,606 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000518.4:c.286A>G | NP_000509.1:p.Lys96Glu |
| Ensemble | ENST00000335295.4:c.286A>G | ENST00000335295.4:p.Lys96Glu |
| ENST00000485743.1:c.286A>G | ENST00000485743.1:p.Lys96Glu |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance | Conflicting classifications of pathogenicity |
| 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 | |
|
other
|
2017-12-12 | no assertion criteria provided |
germline
|
Detail | |
|
other
|
2017-12-12 | no assertion criteria provided |
germline
|
Detail | |
|
other
|
2017-12-12 | no assertion criteria provided |
germline
|
Detail | |
|
other
|
2017-12-12 | no assertion criteria provided |
germline
|
Detail | |
|
other
|
2017-12-12 | no assertion criteria provided |
germline
|
Detail | |
Likely benign
|
2022-10-05 | criteria provided, single submitter | not specified |
germline
|
Detail |
Conflicting interpretations of pathogenicity
|
2023-10-30 | criteria provided, conflicting interpretations | not provided |
germline
unknown
|
Detail |
|
Likely benign
|
2020-09-23 | no assertion criteria provided | beta thalassemia |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000518.4(HBB):c.[19G>A;286A>G] AND HEMOGLOBIN ARLINGTON PARK | ClinVar | Detail |
| NM_000518.5(HBB):c.286A>G (p.Lys96Glu) AND HEMOGLOBIN N (BALTIMORE) | ClinVar | Detail |
| NM_000518.5(HBB):c.286A>G (p.Lys96Glu) AND HEMOGLOBIN N (JENKINS) | ClinVar | Detail |
| NM_000518.5(HBB):c.286A>G (p.Lys96Glu) AND HEMOGLOBIN JENKINS | ClinVar | Detail |
| NM_000518.5(HBB):c.286A>G (p.Lys96Glu) AND HEMOGLOBIN HOPKINS 1 | ClinVar | Detail |
| NM_000518.5(HBB):c.286A>G (p.Lys96Glu) AND HEMOGLOBIN KENWOOD | ClinVar | Detail |
| NM_000518.5(HBB):c.286A>G (p.Lys96Glu) AND not specified | ClinVar | Detail |
| NM_000518.5(HBB):c.286A>G (p.Lys96Glu) AND not provided | ClinVar | Detail |
| NM_000518.5(HBB):c.286A>G (p.Lys96Glu) AND beta Thalassemia | 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
- rs33914359 dbSNP
- Genome
- hg19
- Position
- chr11:5,247,836-5,247,836
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
Genome browser