chr11:5247806:C>T Detail (hg19) (HBB, LOC106099062, LOC107133510, LOC110006319)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr11:5,247,806-5,247,806 |
hg38 | chr11:5,226,576-5,226,576 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000518.4:c.315+1G>A | |
Ensemble | ENST00000335295.4:c.315+1G>A | |
ENST00000485743.1:c.316G>A | ENST00000485743.1:p.Val106Met |
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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2018-01-01 | no assertion criteria provided | Beta zero thalassemia |
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Detail |
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2022-11-03 | criteria provided, multiple submitters, no conflicts | beta thalassemia |
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Detail |
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2024-01-25 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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criteria provided, single submitter | Hb SS disease |
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Detail | |
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2021-08-18 | criteria provided, single submitter | Dominant beta-thalassemia |
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Detail |
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2020-05-14 | criteria provided, single submitter | not specified |
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Detail |
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2022-02-17 | criteria provided, single submitter | Beta-thalassemia HBB/LCRB |
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Detail |
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2022-01-13 | criteria provided, single submitter | alpha thalassemia,Methemoglobinemia, beta-globin type,Beta-thalassemia HBB/LCRB,Hb SS disease,Erythrocytosis, familial, 6,Dominant beta-thalassemia,Heinz body anemia,Malaria, susceptibility to,Hereditary persistence of fetal hemoglobin |
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Detail |
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2022-01-13 | criteria provided, single submitter | alpha thalassemia,Methemoglobinemia, beta-globin type,Beta-thalassemia HBB/LCRB,Hb SS disease,Erythrocytosis, familial, 6,Dominant beta-thalassemia,Heinz body anemia,Malaria, susceptibility to,Hereditary persistence of fetal hemoglobin |
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Detail |
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2022-01-13 | criteria provided, single submitter | alpha thalassemia,Methemoglobinemia, beta-globin type,Beta-thalassemia HBB/LCRB,Hb SS disease,Erythrocytosis, familial, 6,Dominant beta-thalassemia,Heinz body anemia,Malaria, susceptibility to,Hereditary persistence of fetal hemoglobin |
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Detail |
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2022-01-13 | criteria provided, single submitter | alpha thalassemia,Methemoglobinemia, beta-globin type,Beta-thalassemia HBB/LCRB,Hb SS disease,Erythrocytosis, familial, 6,Dominant beta-thalassemia,Heinz body anemia,Malaria, susceptibility to,Hereditary persistence of fetal hemoglobin |
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Detail |
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2022-01-13 | criteria provided, single submitter | alpha thalassemia,Methemoglobinemia, beta-globin type,Beta-thalassemia HBB/LCRB,Hb SS disease,Erythrocytosis, familial, 6,Dominant beta-thalassemia,Heinz body anemia,Malaria, susceptibility to,Hereditary persistence of fetal hemoglobin |
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Detail |
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2022-01-13 | criteria provided, single submitter | alpha thalassemia,Methemoglobinemia, beta-globin type,Beta-thalassemia HBB/LCRB,Hb SS disease,Erythrocytosis, familial, 6,Dominant beta-thalassemia,Heinz body anemia,Malaria, susceptibility to,Hereditary persistence of fetal hemoglobin |
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Detail |
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2022-01-13 | criteria provided, single submitter | alpha thalassemia,Methemoglobinemia, beta-globin type,Beta-thalassemia HBB/LCRB,Hb SS disease,Erythrocytosis, familial, 6,Dominant beta-thalassemia,Heinz body anemia,Malaria, susceptibility to,Hereditary persistence of fetal hemoglobin |
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Detail |
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2022-01-13 | criteria provided, single submitter | alpha thalassemia,Methemoglobinemia, beta-globin type,Beta-thalassemia HBB/LCRB,Hb SS disease,Erythrocytosis, familial, 6,Dominant beta-thalassemia,Heinz body anemia,Malaria, susceptibility to,Hereditary persistence of fetal hemoglobin |
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Detail |
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2022-01-13 | criteria provided, single submitter | alpha thalassemia,Methemoglobinemia, beta-globin type,Beta-thalassemia HBB/LCRB,Hb SS disease,Erythrocytosis, familial, 6,Dominant beta-thalassemia,Heinz body anemia,Malaria, susceptibility to,Hereditary persistence of fetal hemoglobin |
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Detail |
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2024-03-17 | criteria provided, single submitter | Malaria, susceptibility to |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.287 | alpha-Thalassemia | NA | CLINVAR | Detail | |
0.127 | beta^0^ Thalassemia | NA | CLINVAR | Detail | |
0.672 | beta thalassemia | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000518.5(HBB):c.315+1G>A AND Beta zero thalassemia | ClinVar | Detail |
NM_000518.5(HBB):c.315+1G>A AND beta Thalassemia | ClinVar | Detail |
NM_000518.5(HBB):c.315+1G>A AND not provided | ClinVar | Detail |
NM_000518.5(HBB):c.315+1G>A AND Hb SS disease | ClinVar | Detail |
NM_000518.5(HBB):c.315+1G>A AND Dominant beta-thalassemia | ClinVar | Detail |
NM_000518.5(HBB):c.315+1G>A AND not specified | ClinVar | Detail |
NM_000518.5(HBB):c.315+1G>A AND Beta-thalassemia HBB/LCRB | ClinVar | Detail |
NM_000518.5(HBB):c.315+1G>A AND multiple conditions | ClinVar | Detail |
NM_000518.5(HBB):c.315+1G>A AND multiple conditions | ClinVar | Detail |
NM_000518.5(HBB):c.315+1G>A AND multiple conditions | ClinVar | Detail |
NM_000518.5(HBB):c.315+1G>A AND multiple conditions | ClinVar | Detail |
NM_000518.5(HBB):c.315+1G>A AND multiple conditions | ClinVar | Detail |
NM_000518.5(HBB):c.315+1G>A AND multiple conditions | ClinVar | Detail |
NM_000518.5(HBB):c.315+1G>A AND multiple conditions | ClinVar | Detail |
NM_000518.5(HBB):c.315+1G>A AND multiple conditions | ClinVar | Detail |
NM_000518.5(HBB):c.315+1G>A AND multiple conditions | ClinVar | Detail |
NM_000518.5(HBB):c.315+1G>A AND Malaria, susceptibility to | ClinVar | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | 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
- rs33945777 dbSNP
- Genome
- hg19
- Position
- chr11:5,247,806-5,247,806
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8636
- 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)
- 121204
- Allele Counts in All Race (ExAC)
- 5
- Heterozygous Counts in All Race (ExAC)
- 5
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 4.125276393518366E-5
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