chr11:5248029:C>A Detail (hg19) (HBB, LOC106099062, LOC107133510)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr11:5,248,029-5,248,029 |
hg38 | chr11:5,226,799-5,226,799 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000518.4:c.93G>T | NP_000509.1:p.Arg31Ser |
Ensemble | ENST00000335295.4:c.93G>T | ENST00000335295.4:p.Arg31Ser |
ENST00000485743.1:c.93G>T | ENST00000485743.1:p.Arg31Ser |
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 |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2019-11-11 | criteria provided, single submitter | not specified |
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Detail |
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2002-02-01 | no assertion criteria provided | Heinz body anemia |
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Detail |
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2023-06-18 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2021-03-16 | no assertion criteria provided | beta thalassemia |
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Detail |
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2021-11-26 | criteria provided, single submitter | Beta-thalassemia HBB/LCRB |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.360 | Heinz Body Anemias | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000518.5(HBB):c.93G>T (p.Arg31Ser) AND not specified | ClinVar | Detail |
NM_000518.5(HBB):c.93G>T (p.Arg31Ser) AND Heinz body anemia | ClinVar | Detail |
NM_000518.5(HBB):c.93G>T (p.Arg31Ser) AND not provided | ClinVar | Detail |
NM_000518.5(HBB):c.93G>T (p.Arg31Ser) AND beta Thalassemia | ClinVar | Detail |
NM_000518.5(HBB):c.93G>T (p.Arg31Ser) AND Beta-thalassemia HBB/LCRB | ClinVar | 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
- -
- dbSNP
- rs1135071 dbSNP
- Genome
- hg19
- Position
- chr11:5,248,029-5,248,029
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 8578
- 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)
- 121244
- Allele Counts in All Race (ExAC)
- 34
- Heterozygous Counts in All Race (ExAC)
- 34
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 2.8042624789680314E-4
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