chr11:5226820:C>T Detail (hg38) (HBB, LOC106099062, LOC107133510)

Information

Genome

Assembly Position
hg19 chr11:5,248,050-5,248,050 View the variant detail on this assembly version.
hg38 chr11:5,226,820-5,226,820

HGVS

Type Transcript Protein
RefSeq NM_000518.4:c.93-21G>A
Ensemble ENST00000335295.4:c.93-21G>A
ENST00000485743.1:c.93-21G>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 1990-01-01 no assertion criteria provided Beta-plus-thalassemia germline Detail
Pathogenic 2023-05-02 criteria provided, multiple submitters, no conflicts beta thalassemia germline unknown Detail
Pathogenic 2011-08-18 criteria provided, single submitter beta-thalassemia major germline Detail
Pathogenic 2018-10-31 criteria provided, single submitter Erythrocytosis, familial, 6,Hb SS disease,beta thalassemia,Methemoglobinemia, beta-globin type,Dominant beta-thalassemia,Heinz body anemia,Fetal hemoglobin quantitative trait locus 1,alpha thalassemia,Malaria, susceptibility to unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Erythrocytosis, familial, 6,Hb SS disease,beta thalassemia,Methemoglobinemia, beta-globin type,Dominant beta-thalassemia,Heinz body anemia,Fetal hemoglobin quantitative trait locus 1,alpha thalassemia,Malaria, susceptibility to unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Erythrocytosis, familial, 6,Hb SS disease,beta thalassemia,Methemoglobinemia, beta-globin type,Dominant beta-thalassemia,Heinz body anemia,Fetal hemoglobin quantitative trait locus 1,alpha thalassemia,Malaria, susceptibility to unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Erythrocytosis, familial, 6,Hb SS disease,beta thalassemia,Methemoglobinemia, beta-globin type,Dominant beta-thalassemia,Heinz body anemia,Fetal hemoglobin quantitative trait locus 1,alpha thalassemia,Malaria, susceptibility to unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Erythrocytosis, familial, 6,Hb SS disease,beta thalassemia,Methemoglobinemia, beta-globin type,Dominant beta-thalassemia,Heinz body anemia,Fetal hemoglobin quantitative trait locus 1,alpha thalassemia,Malaria, susceptibility to unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Erythrocytosis, familial, 6,Hb SS disease,beta thalassemia,Methemoglobinemia, beta-globin type,Dominant beta-thalassemia,Heinz body anemia,Fetal hemoglobin quantitative trait locus 1,alpha thalassemia,Malaria, susceptibility to unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Erythrocytosis, familial, 6,Hb SS disease,beta thalassemia,Methemoglobinemia, beta-globin type,Dominant beta-thalassemia,Heinz body anemia,Fetal hemoglobin quantitative trait locus 1,alpha thalassemia,Malaria, susceptibility to unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Erythrocytosis, familial, 6,Hb SS disease,beta thalassemia,Methemoglobinemia, beta-globin type,Dominant beta-thalassemia,Heinz body anemia,Fetal hemoglobin quantitative trait locus 1,alpha thalassemia,Malaria, susceptibility to unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Erythrocytosis, familial, 6,Hb SS disease,beta thalassemia,Methemoglobinemia, beta-globin type,Dominant beta-thalassemia,Heinz body anemia,Fetal hemoglobin quantitative trait locus 1,alpha thalassemia,Malaria, susceptibility to unknown Detail
Pathogenic Likely pathogenic 2024-01-22 criteria provided, multiple submitters, no conflicts not provided germline inherited unknown Detail
Pathogenic criteria provided, single submitter Hb SS disease germline Detail
Pathogenic 2019-01-01 criteria provided, single submitter Fetal hemoglobin quantitative trait locus 1 unknown Detail
Pathogenic 2022-08-29 criteria provided, multiple submitters, no conflicts Beta-thalassemia HBB/LCRB unknown germline Detail
Pathogenic 2015-08-31 criteria provided, single submitter Inborn genetic diseases germline Detail
Likely pathogenic 2024-03-26 criteria provided, single submitter Malaria, susceptibility to germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.287 alpha-Thalassemia NA CLINVAR Detail
0.120 beta thalassemia major anemia NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000518.5(HBB):c.93-21G>A AND Beta-plus-thalassemia ClinVar Detail
NM_000518.5(HBB):c.93-21G>A AND beta Thalassemia ClinVar Detail
NM_000518.5(HBB):c.93-21G>A AND Beta-thalassemia major ClinVar Detail
NM_000518.5(HBB):c.93-21G>A AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.93-21G>A AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.93-21G>A AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.93-21G>A AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.93-21G>A AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.93-21G>A AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.93-21G>A AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.93-21G>A AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.93-21G>A AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.93-21G>A AND not provided ClinVar Detail
NM_000518.5(HBB):c.93-21G>A AND Hb SS disease ClinVar Detail
NM_000518.5(HBB):c.93-21G>A AND Fetal hemoglobin quantitative trait locus 1 ClinVar Detail
NM_000518.5(HBB):c.93-21G>A AND Beta-thalassemia HBB/LCRB ClinVar Detail
NM_000518.5(HBB):c.93-21G>A AND Inborn genetic diseases ClinVar Detail
NM_000518.5(HBB):c.93-21G>A AND Malaria, susceptibility to ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs35004220 dbSNP
Genome
hg38
Position
chr11:5,226,820-5,226,820
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8492
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)
120860
Allele Counts in All Race (ExAC)
23
Heterozygous Counts in All Race (ExAC)
23
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.9030282972033757E-4
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