chr11:5226672:C>T Detail (hg38) (HBB, LOC106099062, LOC107133510)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:5,247,902-5,247,902 View the variant detail on this assembly version. |
| hg38 | chr11:5,226,672-5,226,672 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000518.4:c.220G>A | NP_000509.1:p.Asp74Asn |
| Ensemble | ENST00000335295.4:c.220G>A | ENST00000335295.4:p.Asp74Asn |
| ENST00000485743.1:c.220G>A | ENST00000485743.1:p.Asp74Asn |
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 | 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 | |
Conflicting interpretations of pathogenicity
|
2023-11-27 | criteria provided, conflicting interpretations | not provided |
germline
unknown
|
Detail |
Likely benign
|
2020-08-07 | criteria provided, single submitter | not specified |
germline
|
Detail |
|
Likely benign
|
2021-01-22 | no assertion criteria provided | beta thalassemia |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000518.4(HBB):c.[20A>T;220G>A] AND HEMOGLOBIN ZIGUINCHOR | ClinVar | Detail |
| NM_000518.4(HBB):c.220G>A (p.Asp74Asn) AND HEMOGLOBIN KORLE-BU | ClinVar | Detail |
| NM_000518.4(HBB):c.220G>A (p.Asp74Asn) AND not provided | ClinVar | Detail |
| NM_000518.4(HBB):c.220G>A (p.Asp74Asn) AND not specified | ClinVar | Detail |
| NM_000518.4(HBB):c.220G>A (p.Asp74Asn) 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
- rs334 dbSNP
- Genome
- hg38
- Position
- chr11:5,226,672-5,226,672
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8642
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- 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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