chr11:5226676:>T Detail (hg38) (HBB, LOC106099062, LOC107133510)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:5,247,906-5,247,906 |
| hg38 | chr11:5,226,676-5,226,676 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000518.4:c.215_216insA | NP_000509.1:p.Ser73LysfsTer2 |
| Ensemble | ENST00000335295.4:c.215_216insA | ENST00000335295.4:p.Ser73LysfsTer2 |
| ENST00000485743.1:c.215_216insA | ENST00000485743.1:p.Ser73LysfsTer2 |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance |
Pathogenic
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
1984-05-01 | no assertion criteria provided | Beta zero thalassemia |
germline
|
Detail |
|
Pathogenic
|
2024-01-04 | criteria provided, multiple submitters, no conflicts | not provided |
germline
unknown
|
Detail |
|
Pathogenic
Likely pathogenic
|
2019-12-20 | criteria provided, multiple submitters, no conflicts | beta thalassemia |
germline
unknown
|
Detail |
|
Pathogenic
|
2016-09-02 | criteria provided, single submitter | Inborn genetic diseases |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000518.5(HBB):c.217dup (p.Ser73fs) AND Beta zero thalassemia | ClinVar | Detail |
| NM_000518.5(HBB):c.217dup (p.Ser73fs) AND not provided | ClinVar | Detail |
| NM_000518.5(HBB):c.217dup (p.Ser73fs) AND beta Thalassemia | ClinVar | Detail |
| NM_000518.5(HBB):c.217dup (p.Ser73fs) AND Inborn genetic diseases | 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
- rs33969853 dbSNP
- Genome
- hg38
- Position
- chr11:5,226,676-5,226,676
- Variant Type
- snv
- Reference Allele
- -
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8640
- East Asian Allele Counts (ExAC)
- 1
- East Asian Heterozygous Counts (ExAC)
- 1
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 1.1574074074074075E-4
- Chromosome Counts in All Race (ExAC)
- 121394
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.237639422047218E-6
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