chr11:5225729:G>T Detail (hg38) (HBB, LOC107133510, LOC110006319)

Information

Genome

Assembly Position
hg19 chr11:5,246,959-5,246,959 View the variant detail on this assembly version.
hg38 chr11:5,225,729-5,225,729

HGVS

Type Transcript Protein
RefSeq NM_000518.4:c.316-3C>A
Ensemble ENST00000335295.4:c.316-3C>A
ENST00000647020.1:c.316-3C>A
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 Likely 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
Pathogenic 1989-03-01 no assertion criteria provided Beta-plus-thalassemia germline Detail
Pathogenic 2011-08-18 criteria provided, single submitter Beta thalassemia intermedia germline Detail
Pathogenic Likely pathogenic 2024-01-02 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic Likely pathogenic 2019-11-25 no assertion criteria provided beta thalassemia germline unknown Detail
Pathogenic 2022-02-13 criteria provided, single submitter Hereditary persistence of fetal hemoglobin,alpha thalassemia,Malaria, susceptibility to,Erythrocytosis, familial, 6,Hb SS disease,Methemoglobinemia, beta-globin type,Dominant beta-thalassemia,Beta-thalassemia HBB/LCRB,Heinz body anemia unknown Detail
Pathogenic 2022-02-13 criteria provided, single submitter Hereditary persistence of fetal hemoglobin,alpha thalassemia,Malaria, susceptibility to,Erythrocytosis, familial, 6,Hb SS disease,Methemoglobinemia, beta-globin type,Dominant beta-thalassemia,Beta-thalassemia HBB/LCRB,Heinz body anemia unknown Detail
Pathogenic 2022-02-13 criteria provided, single submitter Hereditary persistence of fetal hemoglobin,alpha thalassemia,Malaria, susceptibility to,Erythrocytosis, familial, 6,Hb SS disease,Methemoglobinemia, beta-globin type,Dominant beta-thalassemia,Beta-thalassemia HBB/LCRB,Heinz body anemia unknown Detail
Pathogenic 2022-02-13 criteria provided, single submitter Hereditary persistence of fetal hemoglobin,alpha thalassemia,Malaria, susceptibility to,Erythrocytosis, familial, 6,Hb SS disease,Methemoglobinemia, beta-globin type,Dominant beta-thalassemia,Beta-thalassemia HBB/LCRB,Heinz body anemia unknown Detail
Pathogenic 2022-02-13 criteria provided, single submitter Hereditary persistence of fetal hemoglobin,alpha thalassemia,Malaria, susceptibility to,Erythrocytosis, familial, 6,Hb SS disease,Methemoglobinemia, beta-globin type,Dominant beta-thalassemia,Beta-thalassemia HBB/LCRB,Heinz body anemia unknown Detail
Pathogenic 2022-02-13 criteria provided, single submitter Hereditary persistence of fetal hemoglobin,alpha thalassemia,Malaria, susceptibility to,Erythrocytosis, familial, 6,Hb SS disease,Methemoglobinemia, beta-globin type,Dominant beta-thalassemia,Beta-thalassemia HBB/LCRB,Heinz body anemia unknown Detail
Pathogenic 2022-02-13 criteria provided, single submitter Hereditary persistence of fetal hemoglobin,alpha thalassemia,Malaria, susceptibility to,Erythrocytosis, familial, 6,Hb SS disease,Methemoglobinemia, beta-globin type,Dominant beta-thalassemia,Beta-thalassemia HBB/LCRB,Heinz body anemia unknown Detail
Pathogenic 2022-02-13 criteria provided, single submitter Hereditary persistence of fetal hemoglobin,alpha thalassemia,Malaria, susceptibility to,Erythrocytosis, familial, 6,Hb SS disease,Methemoglobinemia, beta-globin type,Dominant beta-thalassemia,Beta-thalassemia HBB/LCRB,Heinz body anemia unknown Detail
Pathogenic 2022-02-13 criteria provided, single submitter Hereditary persistence of fetal hemoglobin,alpha thalassemia,Malaria, susceptibility to,Erythrocytosis, familial, 6,Hb SS disease,Methemoglobinemia, beta-globin type,Dominant beta-thalassemia,Beta-thalassemia HBB/LCRB,Heinz body anemia unknown Detail
Pathogenic 2023-02-17 criteria provided, single submitter HBB-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.244 Beta thalassemia intermedia NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000518.5(HBB):c.316-3C>A AND Beta-plus-thalassemia ClinVar Detail
NM_000518.5(HBB):c.316-3C>A AND Beta thalassemia intermedia ClinVar Detail
NM_000518.5(HBB):c.316-3C>A AND not provided ClinVar Detail
NM_000518.5(HBB):c.316-3C>A AND beta Thalassemia ClinVar Detail
NM_000518.5(HBB):c.316-3C>A AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.316-3C>A AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.316-3C>A AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.316-3C>A AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.316-3C>A AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.316-3C>A AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.316-3C>A AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.316-3C>A AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.316-3C>A AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.316-3C>A AND HBB-related disorder ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs33913413 dbSNP
Genome
hg38
Position
chr11:5,225,729-5,225,729
Variant Type
snv
Reference Allele
G
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8626
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)
121222
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)
8.249327679794096E-6
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