chr11:5248233:C>T Detail (hg19) (HBB, LOC106099062, LOC107133510)

Information

Genome

Assembly Position
hg19 chr11:5,248,233-5,248,233
hg38 chr11:5,227,003-5,227,003 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000518.4:c.19G>A NP_000509.1:p.Glu7Lys
Ensemble ENST00000485743.1:c.19G>A ENST00000485743.1:p.Glu7Lys
ENST00000335295.4:c.19G>A ENST00000335295.4:p.Glu7Lys
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 2017-12-12 no assertion criteria provided germline Detail
Pathogenic 2011-12-02 no assertion criteria provided HEMOGLOBIN C germline Detail
protective 2011-12-02 no assertion criteria provided Malaria, resistance to germline Detail
Pathogenic 2021-02-10 criteria provided, multiple submitters, no conflicts Hb SS disease germline inherited Detail
Pathogenic 2024-04-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2019-11-15 criteria provided, multiple submitters, no conflicts beta thalassemia germline unknown Detail
Pathogenic 2021-06-30 criteria provided, single submitter Hb SS disease,Erythrocytosis, familial, 6,Methemoglobinemia, beta-globin type,Fetal hemoglobin quantitative trait locus 1,beta thalassemia,Heinz body anemia,Malaria, susceptibility to,alpha thalassemia,Dominant beta-thalassemia unknown Detail
Pathogenic 2021-06-30 criteria provided, single submitter Hb SS disease,Erythrocytosis, familial, 6,Methemoglobinemia, beta-globin type,Fetal hemoglobin quantitative trait locus 1,beta thalassemia,Heinz body anemia,Malaria, susceptibility to,alpha thalassemia,Dominant beta-thalassemia unknown Detail
Pathogenic 2021-06-30 criteria provided, single submitter Hb SS disease,Erythrocytosis, familial, 6,Methemoglobinemia, beta-globin type,Fetal hemoglobin quantitative trait locus 1,beta thalassemia,Heinz body anemia,Malaria, susceptibility to,alpha thalassemia,Dominant beta-thalassemia unknown Detail
Pathogenic 2021-06-30 criteria provided, single submitter Hb SS disease,Erythrocytosis, familial, 6,Methemoglobinemia, beta-globin type,Fetal hemoglobin quantitative trait locus 1,beta thalassemia,Heinz body anemia,Malaria, susceptibility to,alpha thalassemia,Dominant beta-thalassemia unknown Detail
Pathogenic 2021-06-30 criteria provided, single submitter Hb SS disease,Erythrocytosis, familial, 6,Methemoglobinemia, beta-globin type,Fetal hemoglobin quantitative trait locus 1,beta thalassemia,Heinz body anemia,Malaria, susceptibility to,alpha thalassemia,Dominant beta-thalassemia unknown Detail
Pathogenic 2021-06-30 criteria provided, single submitter Hb SS disease,Erythrocytosis, familial, 6,Methemoglobinemia, beta-globin type,Fetal hemoglobin quantitative trait locus 1,beta thalassemia,Heinz body anemia,Malaria, susceptibility to,alpha thalassemia,Dominant beta-thalassemia unknown Detail
Pathogenic 2021-06-30 criteria provided, single submitter Hb SS disease,Erythrocytosis, familial, 6,Methemoglobinemia, beta-globin type,Fetal hemoglobin quantitative trait locus 1,beta thalassemia,Heinz body anemia,Malaria, susceptibility to,alpha thalassemia,Dominant beta-thalassemia unknown Detail
Pathogenic 2021-06-30 criteria provided, single submitter Hb SS disease,Erythrocytosis, familial, 6,Methemoglobinemia, beta-globin type,Fetal hemoglobin quantitative trait locus 1,beta thalassemia,Heinz body anemia,Malaria, susceptibility to,alpha thalassemia,Dominant beta-thalassemia unknown Detail
Pathogenic 2021-06-30 criteria provided, single submitter Hb SS disease,Erythrocytosis, familial, 6,Methemoglobinemia, beta-globin type,Fetal hemoglobin quantitative trait locus 1,beta thalassemia,Heinz body anemia,Malaria, susceptibility to,alpha thalassemia,Dominant beta-thalassemia unknown Detail
Pathogenic 2022-01-05 criteria provided, single submitter Heinz body anemia germline Detail
Pathogenic 2022-08-22 criteria provided, single submitter Beta-thalassemia HBB/LCRB germline unknown Detail
Pathogenic 2023-10-13 criteria provided, single submitter Inborn genetic diseases germline Detail
Pathogenic 2022-10-29 criteria provided, single submitter Hereditary persistence of fetal hemoglobin germline Detail
Pathogenic 2022-09-14 criteria provided, single submitter Sickle cell-hemoglobin C disease germline Detail
Pathogenic 2024-01-03 criteria provided, multiple submitters, no conflicts HBB-related disorder germline Detail
Pathogenic 2023-11-10 criteria provided, single submitter Inherited hemoglobinopathy 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
Annotation

Annotations

DescrptionSourceLinks
NM_000518.4(HBB):c.[19G>A;286A>G] AND HEMOGLOBIN ARLINGTON PARK ClinVar Detail
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) AND HEMOGLOBIN C ClinVar Detail
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) AND Malaria, resistance to ClinVar Detail
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) AND Hb SS disease ClinVar Detail
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) AND not provided ClinVar Detail
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) AND beta Thalassemia ClinVar Detail
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) AND multiple conditions ClinVar Detail
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) AND multiple conditions ClinVar Detail
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) AND multiple conditions ClinVar Detail
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) AND multiple conditions ClinVar Detail
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) AND multiple conditions ClinVar Detail
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) AND multiple conditions ClinVar Detail
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) AND multiple conditions ClinVar Detail
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) AND multiple conditions ClinVar Detail
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) AND multiple conditions ClinVar Detail
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) AND Heinz body anemia ClinVar Detail
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) AND Beta-thalassemia HBB/LCRB ClinVar Detail
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) AND Inborn genetic diseases ClinVar Detail
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) AND Hereditary persistence of fetal hemoglobin ClinVar Detail
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) AND Sickle cell-hemoglobin C disease ClinVar Detail
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) AND HBB-related disorder ClinVar Detail
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) AND Inherited hemoglobinopathy ClinVar 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
rs33914359 dbSNP
Genome
hg19
Position
chr11:5,248,233-5,248,233
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8620
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)
121340
Allele Counts in All Race (ExAC)
149
Heterozygous Counts in All Race (ExAC)
149
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
0.0012279545079940664
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