chr11:5247995:AGAA> Detail (hg19) (HBB, LOC106099062, LOC107133510)

Information

Genome

Assembly Position
hg19 chr11:5,247,995-5,247,998
hg38 chr11:5,226,765-5,226,768 

HGVS

Type Transcript Protein
RefSeq NM_000518.4:c.124_127delTTCT NP_000509.1:p.Phe42LeufsTer19
Ensemble ENST00000647020.1:c.124_127delTTCT ENST00000647020.1:p.Phe42LeufsTer19
ENST00000335295.4:c.124_127delTTCT ENST00000335295.4:p.Phe42LeufsTer19
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:0.002

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 2002-09-28 no assertion criteria provided Beta zero thalassemia germline Detail
Pathogenic Likely pathogenic 2019-12-09 criteria provided, multiple submitters, no conflicts beta thalassemia germline unknown Detail
Pathogenic 2024-01-31 criteria provided, multiple submitters, no conflicts not provided germline 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 2015-11-25 criteria provided, single submitter Inborn genetic diseases germline Detail
Pathogenic 2021-11-04 criteria provided, multiple submitters, no conflicts Beta-thalassemia HBB/LCRB germline Detail
Pathogenic 2022-03-08 criteria provided, single submitter Malaria, susceptibility to,Hereditary persistence of fetal hemoglobin,Erythrocytosis, familial, 6,alpha thalassemia,Hb SS disease,Heinz body anemia,Dominant beta-thalassemia,Methemoglobinemia, beta-globin type,Beta-thalassemia HBB/LCRB unknown Detail
Pathogenic 2022-03-08 criteria provided, single submitter Malaria, susceptibility to,Hereditary persistence of fetal hemoglobin,Erythrocytosis, familial, 6,alpha thalassemia,Hb SS disease,Heinz body anemia,Dominant beta-thalassemia,Methemoglobinemia, beta-globin type,Beta-thalassemia HBB/LCRB unknown Detail
Pathogenic 2022-03-08 criteria provided, single submitter Malaria, susceptibility to,Hereditary persistence of fetal hemoglobin,Erythrocytosis, familial, 6,alpha thalassemia,Hb SS disease,Heinz body anemia,Dominant beta-thalassemia,Methemoglobinemia, beta-globin type,Beta-thalassemia HBB/LCRB unknown Detail
Pathogenic 2022-03-08 criteria provided, single submitter Malaria, susceptibility to,Hereditary persistence of fetal hemoglobin,Erythrocytosis, familial, 6,alpha thalassemia,Hb SS disease,Heinz body anemia,Dominant beta-thalassemia,Methemoglobinemia, beta-globin type,Beta-thalassemia HBB/LCRB unknown Detail
Pathogenic 2022-03-08 criteria provided, single submitter Malaria, susceptibility to,Hereditary persistence of fetal hemoglobin,Erythrocytosis, familial, 6,alpha thalassemia,Hb SS disease,Heinz body anemia,Dominant beta-thalassemia,Methemoglobinemia, beta-globin type,Beta-thalassemia HBB/LCRB unknown Detail
Pathogenic 2022-03-08 criteria provided, single submitter Malaria, susceptibility to,Hereditary persistence of fetal hemoglobin,Erythrocytosis, familial, 6,alpha thalassemia,Hb SS disease,Heinz body anemia,Dominant beta-thalassemia,Methemoglobinemia, beta-globin type,Beta-thalassemia HBB/LCRB unknown Detail
Pathogenic 2022-03-08 criteria provided, single submitter Malaria, susceptibility to,Hereditary persistence of fetal hemoglobin,Erythrocytosis, familial, 6,alpha thalassemia,Hb SS disease,Heinz body anemia,Dominant beta-thalassemia,Methemoglobinemia, beta-globin type,Beta-thalassemia HBB/LCRB unknown Detail
Pathogenic 2022-03-08 criteria provided, single submitter Malaria, susceptibility to,Hereditary persistence of fetal hemoglobin,Erythrocytosis, familial, 6,alpha thalassemia,Hb SS disease,Heinz body anemia,Dominant beta-thalassemia,Methemoglobinemia, beta-globin type,Beta-thalassemia HBB/LCRB unknown Detail
Pathogenic 2022-03-08 criteria provided, single submitter Malaria, susceptibility to,Hereditary persistence of fetal hemoglobin,Erythrocytosis, familial, 6,alpha thalassemia,Hb SS disease,Heinz body anemia,Dominant beta-thalassemia,Methemoglobinemia, beta-globin type,Beta-thalassemia HBB/LCRB unknown Detail
Pathogenic 2024-01-09 criteria provided, single submitter HBB-related disorder germline 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
Annotation

Annotations

DescrptionSourceLinks
NM_000518.5(HBB):c.126_129del (p.Phe42fs) AND Beta zero thalassemia ClinVar Detail
NM_000518.5(HBB):c.126_129del (p.Phe42fs) AND beta Thalassemia ClinVar Detail
NM_000518.5(HBB):c.126_129del (p.Phe42fs) AND not provided ClinVar Detail
NM_000518.5(HBB):c.126_129del (p.Phe42fs) AND Hb SS disease ClinVar Detail
NM_000518.5(HBB):c.126_129del (p.Phe42fs) AND Fetal hemoglobin quantitative trait locus 1 ClinVar Detail
NM_000518.5(HBB):c.126_129del (p.Phe42fs) AND Inborn genetic diseases ClinVar Detail
NM_000518.5(HBB):c.126_129del (p.Phe42fs) AND Beta-thalassemia HBB/LCRB ClinVar Detail
NM_000518.5(HBB):c.126_129del (p.Phe42fs) AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.126_129del (p.Phe42fs) AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.126_129del (p.Phe42fs) AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.126_129del (p.Phe42fs) AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.126_129del (p.Phe42fs) AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.126_129del (p.Phe42fs) AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.126_129del (p.Phe42fs) AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.126_129del (p.Phe42fs) AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.126_129del (p.Phe42fs) AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.126_129del (p.Phe42fs) AND HBB-related disorder 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
rs80356821 dbSNP
Genome
hg19
Position
chr11:5,247,995-5,247,998
Variant Type
snv
Reference Allele
AGAA
Alternative Allele
-
East Asian Chromosome Counts (ExAC)
8632
East Asian Allele Counts (ExAC)
19
East Asian Heterozygous Counts (ExAC)
19
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.002201112140871177
Chromosome Counts in All Race (ExAC)
121370
Allele Counts in All Race (ExAC)
33
Heterozygous Counts in All Race (ExAC)
33
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.7189585564801845E-4
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