chr11:5248173:C>T Detail (hg19) (HBB, LOC106099062, LOC107133510, LOC110006319)

Information

Genome

Assembly Position
hg19 chr11:5,248,173-5,248,173
hg38 chr11:5,226,943-5,226,943 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000518.4:c.79G>A NP_000509.1:p.Glu27Lys
Ensemble ENST00000485743.1:c.79G>A ENST00000485743.1:p.Glu27Lys
ENST00000335295.4:c.79G>A ENST00000335295.4:p.Glu27Lys
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
Review star
Show details
Links
Type Database ID Link
Gene MIM 141900 OMIM
HGNC 4827 HGNC
Ensembl ENSG00000244734 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
other 2019-07-16 no assertion criteria provided germline Detail
Pathogenic 2009-11-03 no assertion criteria provided Beta-plus-thalassemia germline Detail
Pathogenic 2009-11-03 no assertion criteria provided Hemoglobin E/beta thalassemia disease germline Detail
protective 2009-11-03 no assertion criteria provided Malaria, resistance to germline Detail
other 2016-07-20 no assertion criteria provided germline Detail
Pathogenic 2022-03-10 criteria provided, single submitter Hb SS disease germline unknown Detail
Pathogenic 2022-11-03 criteria provided, multiple submitters, no conflicts beta thalassemia germline maternal unknown Detail
Pathogenic 2022-08-08 criteria provided, multiple submitters, no conflicts not specified germline Detail
Pathogenic 2024-01-31 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2018-08-14 criteria provided, single submitter hemoglobin E disease germline Detail
Pathogenic 2018-12-10 criteria provided, single submitter anemia germline Detail
Pathogenic 2021-06-30 criteria provided, single submitter Dominant beta-thalassemia,Heinz body anemia,beta thalassemia,Fetal hemoglobin quantitative trait locus 1,Malaria, susceptibility to,Hb SS disease,Methemoglobinemia, beta-globin type,alpha thalassemia,Erythrocytosis, familial, 6 unknown Detail
Pathogenic 2021-06-30 criteria provided, single submitter Dominant beta-thalassemia,Heinz body anemia,beta thalassemia,Fetal hemoglobin quantitative trait locus 1,Malaria, susceptibility to,Hb SS disease,Methemoglobinemia, beta-globin type,alpha thalassemia,Erythrocytosis, familial, 6 unknown Detail
Pathogenic 2021-06-30 criteria provided, single submitter Dominant beta-thalassemia,Heinz body anemia,beta thalassemia,Fetal hemoglobin quantitative trait locus 1,Malaria, susceptibility to,Hb SS disease,Methemoglobinemia, beta-globin type,alpha thalassemia,Erythrocytosis, familial, 6 unknown Detail
Pathogenic 2021-06-30 criteria provided, single submitter Dominant beta-thalassemia,Heinz body anemia,beta thalassemia,Fetal hemoglobin quantitative trait locus 1,Malaria, susceptibility to,Hb SS disease,Methemoglobinemia, beta-globin type,alpha thalassemia,Erythrocytosis, familial, 6 unknown Detail
Pathogenic 2021-06-30 criteria provided, single submitter Dominant beta-thalassemia,Heinz body anemia,beta thalassemia,Fetal hemoglobin quantitative trait locus 1,Malaria, susceptibility to,Hb SS disease,Methemoglobinemia, beta-globin type,alpha thalassemia,Erythrocytosis, familial, 6 unknown Detail
Pathogenic 2021-06-30 criteria provided, single submitter Dominant beta-thalassemia,Heinz body anemia,beta thalassemia,Fetal hemoglobin quantitative trait locus 1,Malaria, susceptibility to,Hb SS disease,Methemoglobinemia, beta-globin type,alpha thalassemia,Erythrocytosis, familial, 6 unknown Detail
Pathogenic 2021-06-30 criteria provided, single submitter Dominant beta-thalassemia,Heinz body anemia,beta thalassemia,Fetal hemoglobin quantitative trait locus 1,Malaria, susceptibility to,Hb SS disease,Methemoglobinemia, beta-globin type,alpha thalassemia,Erythrocytosis, familial, 6 unknown Detail
Pathogenic 2021-06-30 criteria provided, single submitter Dominant beta-thalassemia,Heinz body anemia,beta thalassemia,Fetal hemoglobin quantitative trait locus 1,Malaria, susceptibility to,Hb SS disease,Methemoglobinemia, beta-globin type,alpha thalassemia,Erythrocytosis, familial, 6 unknown Detail
Pathogenic 2021-06-30 criteria provided, single submitter Dominant beta-thalassemia,Heinz body anemia,beta thalassemia,Fetal hemoglobin quantitative trait locus 1,Malaria, susceptibility to,Hb SS disease,Methemoglobinemia, beta-globin type,alpha thalassemia,Erythrocytosis, familial, 6 unknown Detail
Pathogenic 2024-01-05 criteria provided, multiple submitters, no conflicts Beta-thalassemia HBB/LCRB germline unknown Detail
Pathogenic 2017-08-08 criteria provided, single submitter Inborn genetic diseases germline Detail
Pathogenic 2024-03-29 criteria provided, single submitter Malaria, susceptibility to germline Detail
Pathogenic 2023-05-27 criteria provided, single submitter HBB-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.120 Malaria, resistance to NA CLINVAR Detail
0.578 Anemia, Sickle Cell NA CLINVAR Detail
0.263 Hemoglobinopathies Hemoglobin E (E26K variant of beta-globin gene) causing hemoglobinopathy is comm... BeFree 19230568 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) AND Hemoglobin E ClinVar Detail
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) AND Beta-plus-thalassemia ClinVar Detail
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) AND Hemoglobin E/beta thalassemia disease ClinVar Detail
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) AND Malaria, resistance to ClinVar Detail
NM_000518.4(HBB):c.[364G>C;79G>A] AND HEMOGLOBIN T (CAMBODIA) ClinVar Detail
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) AND Hb SS disease ClinVar Detail
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) AND beta Thalassemia ClinVar Detail
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) AND not specified ClinVar Detail
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) AND not provided ClinVar Detail
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) AND Hemoglobin E disease ClinVar Detail
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) AND Anemia ClinVar Detail
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) AND Beta-thalassemia HBB/LCRB ClinVar Detail
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) AND Inborn genetic diseases ClinVar Detail
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) AND Malaria, susceptibility to ClinVar Detail
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) AND HBB-related disorder ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
Hemoglobin E (E26K variant of beta-globin gene) causing hemoglobinopathy is commonly observed in par... 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
rs33950507 dbSNP
Genome
hg19
Position
chr11:5,248,173-5,248,173
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8620
East Asian Allele Counts (ExAC)
10
East Asian Heterozygous Counts (ExAC)
10
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.001160092807424594
Chromosome Counts in All Race (ExAC)
121356
Allele Counts in All Race (ExAC)
35
Heterozygous Counts in All Race (ExAC)
35
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.8840766010745244E-4
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