chr11:5247988:G> Detail (hg19) (HBB, LOC106099062, LOC107133510)

Information

Genome

Assembly Position
hg19 chr11:5,247,988-5,247,988
hg38 chr11:5,226,758-5,226,758 

HGVS

Type Transcript Protein
RefSeq NM_000518.4:c.134delC NP_000509.1:p.Phe46LeufsTer16
Ensemble ENST00000335295.4:c.134delC ENST00000335295.4:p.Phe46LeufsTer16
ENST00000485743.1:c.134delC ENST00000485743.1:p.Phe46LeufsTer16
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 1982-09-25 no assertion criteria provided Beta zero thalassemia germline Detail
Pathogenic 2022-11-03 criteria provided, multiple submitters, no conflicts beta thalassemia germline unknown Detail
Pathogenic 2023-12-30 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Likely pathogenic 2021-06-28 criteria provided, single submitter Dominant beta-thalassemia unknown Detail
Pathogenic 2021-10-26 criteria provided, single submitter Erythrocytosis, familial, 6,Hereditary persistence of fetal hemoglobin,Malaria, susceptibility to,Dominant beta-thalassemia,Beta-thalassemia HBB/LCRB,Methemoglobinemia, beta-globin type,Heinz body anemia,alpha thalassemia,Hb SS disease unknown Detail
Pathogenic 2021-10-26 criteria provided, single submitter Erythrocytosis, familial, 6,Hereditary persistence of fetal hemoglobin,Malaria, susceptibility to,Dominant beta-thalassemia,Beta-thalassemia HBB/LCRB,Methemoglobinemia, beta-globin type,Heinz body anemia,alpha thalassemia,Hb SS disease unknown Detail
Pathogenic 2021-10-26 criteria provided, single submitter Erythrocytosis, familial, 6,Hereditary persistence of fetal hemoglobin,Malaria, susceptibility to,Dominant beta-thalassemia,Beta-thalassemia HBB/LCRB,Methemoglobinemia, beta-globin type,Heinz body anemia,alpha thalassemia,Hb SS disease unknown Detail
Pathogenic 2021-10-26 criteria provided, single submitter Erythrocytosis, familial, 6,Hereditary persistence of fetal hemoglobin,Malaria, susceptibility to,Dominant beta-thalassemia,Beta-thalassemia HBB/LCRB,Methemoglobinemia, beta-globin type,Heinz body anemia,alpha thalassemia,Hb SS disease unknown Detail
Pathogenic 2021-10-26 criteria provided, single submitter Erythrocytosis, familial, 6,Hereditary persistence of fetal hemoglobin,Malaria, susceptibility to,Dominant beta-thalassemia,Beta-thalassemia HBB/LCRB,Methemoglobinemia, beta-globin type,Heinz body anemia,alpha thalassemia,Hb SS disease unknown Detail
Pathogenic 2021-10-26 criteria provided, single submitter Erythrocytosis, familial, 6,Hereditary persistence of fetal hemoglobin,Malaria, susceptibility to,Dominant beta-thalassemia,Beta-thalassemia HBB/LCRB,Methemoglobinemia, beta-globin type,Heinz body anemia,alpha thalassemia,Hb SS disease unknown Detail
Pathogenic 2021-10-26 criteria provided, single submitter Erythrocytosis, familial, 6,Hereditary persistence of fetal hemoglobin,Malaria, susceptibility to,Dominant beta-thalassemia,Beta-thalassemia HBB/LCRB,Methemoglobinemia, beta-globin type,Heinz body anemia,alpha thalassemia,Hb SS disease unknown Detail
Pathogenic 2021-10-26 criteria provided, single submitter Erythrocytosis, familial, 6,Hereditary persistence of fetal hemoglobin,Malaria, susceptibility to,Dominant beta-thalassemia,Beta-thalassemia HBB/LCRB,Methemoglobinemia, beta-globin type,Heinz body anemia,alpha thalassemia,Hb SS disease unknown Detail
Pathogenic 2021-10-26 criteria provided, single submitter Erythrocytosis, familial, 6,Hereditary persistence of fetal hemoglobin,Malaria, susceptibility to,Dominant beta-thalassemia,Beta-thalassemia HBB/LCRB,Methemoglobinemia, beta-globin type,Heinz body anemia,alpha thalassemia,Hb SS disease unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.287 alpha-Thalassemia NA CLINVAR Detail
0.127 beta^0^ Thalassemia NA CLINVAR Detail
0.672 beta thalassemia NA CLINVAR Detail
0.672 beta thalassemia Prevalence and molecular characterization of β-thalassemia in the state of Bahia... BeFree 23425035 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000518.5(HBB):c.135del (p.Phe46fs) AND Beta zero thalassemia ClinVar Detail
NM_000518.5(HBB):c.135del (p.Phe46fs) AND beta Thalassemia ClinVar Detail
NM_000518.5(HBB):c.135del (p.Phe46fs) AND not provided ClinVar Detail
NM_000518.5(HBB):c.135del (p.Phe46fs) AND Dominant beta-thalassemia ClinVar Detail
NM_000518.5(HBB):c.135del (p.Phe46fs) AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.135del (p.Phe46fs) AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.135del (p.Phe46fs) AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.135del (p.Phe46fs) AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.135del (p.Phe46fs) AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.135del (p.Phe46fs) AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.135del (p.Phe46fs) AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.135del (p.Phe46fs) AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.135del (p.Phe46fs) AND multiple conditions ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Prevalence and molecular characterization of β-thalassemia in the state of Bahia, Brazil: first iden... 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
rs80356820 dbSNP
Genome
hg19
Position
chr11:5,247,988-5,247,988
Variant Type
snv
Reference Allele
G
Alternative Allele
-
East Asian Chromosome Counts (ExAC)
8638
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)
121382
Allele Counts in All Race (ExAC)
4
Heterozygous Counts in All Race (ExAC)
4
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
3.295381522795802E-5
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