chr11:5226774:G>A Detail (hg38) (HBB, LOC106099062, LOC107133510)

Information

Genome

Assembly Position
hg19 chr11:5,248,004-5,248,004 View the variant detail on this assembly version.
hg38 chr11:5,226,774-5,226,774

HGVS

Type Transcript Protein
RefSeq NM_000518.4:c.118C>T NP_000509.1:p.Gln40Ter
Ensemble ENST00000335295.4:c.118C>T ENST00000335295.4:p.Gln40Ter
ENST00000485743.1:c.118C>T ENST00000485743.1:p.Gln40Ter
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 tgv371136710 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1992-02-01 no assertion criteria provided Beta zero thalassemia germline Detail
Pathogenic 2024-01-29 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2024-03-20 criteria provided, multiple submitters, no conflicts beta thalassemia germline maternal unknown Detail
Pathogenic 2023-05-09 criteria provided, multiple submitters, no conflicts Hb SS disease germline unknown Detail
Pathogenic 2019-03-28 criteria provided, single submitter alpha thalassemia unknown Detail
Pathogenic 2022-04-10 criteria provided, single submitter Heinz body anemia germline Detail
Pathogenic 2023-03-17 criteria provided, multiple submitters, no conflicts Beta-thalassemia HBB/LCRB germline unknown Detail
Pathogenic 2016-12-09 criteria provided, single submitter Inborn genetic diseases germline Detail
Pathogenic 2022-02-01 criteria provided, single submitter Hereditary persistence of fetal hemoglobin,Malaria, susceptibility to,Hb SS disease,Beta-thalassemia HBB/LCRB,Heinz body anemia,Methemoglobinemia, beta-globin type,Dominant beta-thalassemia,Erythrocytosis, familial, 6,alpha thalassemia unknown Detail
Pathogenic 2022-02-01 criteria provided, single submitter Hereditary persistence of fetal hemoglobin,Malaria, susceptibility to,Hb SS disease,Beta-thalassemia HBB/LCRB,Heinz body anemia,Methemoglobinemia, beta-globin type,Dominant beta-thalassemia,Erythrocytosis, familial, 6,alpha thalassemia unknown Detail
Pathogenic 2022-02-01 criteria provided, single submitter Hereditary persistence of fetal hemoglobin,Malaria, susceptibility to,Hb SS disease,Beta-thalassemia HBB/LCRB,Heinz body anemia,Methemoglobinemia, beta-globin type,Dominant beta-thalassemia,Erythrocytosis, familial, 6,alpha thalassemia unknown Detail
Pathogenic 2022-02-01 criteria provided, single submitter Hereditary persistence of fetal hemoglobin,Malaria, susceptibility to,Hb SS disease,Beta-thalassemia HBB/LCRB,Heinz body anemia,Methemoglobinemia, beta-globin type,Dominant beta-thalassemia,Erythrocytosis, familial, 6,alpha thalassemia unknown Detail
Pathogenic 2022-02-01 criteria provided, single submitter Hereditary persistence of fetal hemoglobin,Malaria, susceptibility to,Hb SS disease,Beta-thalassemia HBB/LCRB,Heinz body anemia,Methemoglobinemia, beta-globin type,Dominant beta-thalassemia,Erythrocytosis, familial, 6,alpha thalassemia unknown Detail
Pathogenic 2022-02-01 criteria provided, single submitter Hereditary persistence of fetal hemoglobin,Malaria, susceptibility to,Hb SS disease,Beta-thalassemia HBB/LCRB,Heinz body anemia,Methemoglobinemia, beta-globin type,Dominant beta-thalassemia,Erythrocytosis, familial, 6,alpha thalassemia unknown Detail
Pathogenic 2022-02-01 criteria provided, single submitter Hereditary persistence of fetal hemoglobin,Malaria, susceptibility to,Hb SS disease,Beta-thalassemia HBB/LCRB,Heinz body anemia,Methemoglobinemia, beta-globin type,Dominant beta-thalassemia,Erythrocytosis, familial, 6,alpha thalassemia unknown Detail
Pathogenic 2022-02-01 criteria provided, single submitter Hereditary persistence of fetal hemoglobin,Malaria, susceptibility to,Hb SS disease,Beta-thalassemia HBB/LCRB,Heinz body anemia,Methemoglobinemia, beta-globin type,Dominant beta-thalassemia,Erythrocytosis, familial, 6,alpha thalassemia unknown Detail
Pathogenic 2022-02-01 criteria provided, single submitter Hereditary persistence of fetal hemoglobin,Malaria, susceptibility to,Hb SS disease,Beta-thalassemia HBB/LCRB,Heinz body anemia,Methemoglobinemia, beta-globin type,Dominant beta-thalassemia,Erythrocytosis, familial, 6,alpha thalassemia unknown Detail
Pathogenic 2024-03-17 criteria provided, single submitter Malaria, susceptibility to germline Detail
Pathogenic 2023-12-24 criteria provided, single submitter HBB-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.672 beta thalassemia This was documented in FH patients identified on the island of Sardinia, in Ital... BeFree 15630628 Detail
0.672 beta thalassemia In this population, a single mutation of beta-globin gene (Q39X, beta(0) 39) acc... BeFree 10634824 Detail
0.287 alpha-Thalassemia NA CLINVAR Detail
0.065 thalassemia This was documented in FH patients identified on the island of Sardinia, in Ital... BeFree 15630628 Detail
0.127 beta^0^ Thalassemia NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) AND Beta zero thalassemia ClinVar Detail
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) AND not provided ClinVar Detail
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) AND beta Thalassemia ClinVar Detail
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) AND Hb SS disease ClinVar Detail
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) AND alpha Thalassemia ClinVar Detail
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) AND Heinz body anemia ClinVar Detail
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) AND Beta-thalassemia HBB/LCRB ClinVar Detail
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) AND Inborn genetic diseases ClinVar Detail
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) AND Malaria, susceptibility to ClinVar Detail
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) AND HBB-related disorder ClinVar Detail
This was documented in FH patients identified on the island of Sardinia, in Italy, where 12% of the ... DisGeNET Detail
In this population, a single mutation of beta-globin gene (Q39X, beta(0) 39) accounts for &gt;95% of... DisGeNET Detail
NA DisGeNET Detail
This was documented in FH patients identified on the island of Sardinia, in Italy, where 12% of the ... 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
rs11549407 dbSNP
Genome
hg38
Position
chr11:5,226,774-5,226,774
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Heterozygous Counts in All Race (ExAC)
51
Homozygous Counts in All Race (ExAC)
0
East Asian Chromosome Counts (ExAC)
8624
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)
121354
Allele Counts in All Race (ExAC)
51
Allele Frequency in All Race (ExAC)
4.2025808790810355E-4
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