chr11:5248226:>C Detail (hg19) (HBB, LOC106099062, LOC107133510)

Information

Genome

Assembly Position
hg19 chr11:5,248,226-5,248,226
hg38 chr11:5,226,996-5,226,996 

HGVS

Type Transcript Protein
RefSeq NM_000518.4:c.25_26insG NP_000509.1:p.Ser10ValfsTer14
Ensemble ENST00000647020.1:c.25_26insG ENST00000647020.1:p.Ser10ValfsTer14
ENST00000485743.1:c.25_26insG ENST00000485743.1:p.Ser10ValfsTer14
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 Conflicting classifications of pathogenicity
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 2017-02-27 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 2024-02-26 criteria provided, multiple submitters, no conflicts HBB-related disorder germline Detail
Pathogenic 2023-12-12 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic criteria provided, single submitter Hb SS disease germline Detail
Pathogenic 2021-10-08 criteria provided, single submitter Malaria, susceptibility to,Hereditary persistence of fetal hemoglobin,Methemoglobinemia, beta-globin type,Dominant beta-thalassemia,alpha thalassemia,Hb SS disease,Erythrocytosis, familial, 6,Heinz body anemia,Beta-thalassemia HBB/LCRB unknown Detail
Pathogenic 2021-10-08 criteria provided, single submitter Malaria, susceptibility to,Hereditary persistence of fetal hemoglobin,Methemoglobinemia, beta-globin type,Dominant beta-thalassemia,alpha thalassemia,Hb SS disease,Erythrocytosis, familial, 6,Heinz body anemia,Beta-thalassemia HBB/LCRB unknown Detail
Pathogenic 2021-10-08 criteria provided, single submitter Malaria, susceptibility to,Hereditary persistence of fetal hemoglobin,Methemoglobinemia, beta-globin type,Dominant beta-thalassemia,alpha thalassemia,Hb SS disease,Erythrocytosis, familial, 6,Heinz body anemia,Beta-thalassemia HBB/LCRB unknown Detail
Pathogenic 2021-10-08 criteria provided, single submitter Malaria, susceptibility to,Hereditary persistence of fetal hemoglobin,Methemoglobinemia, beta-globin type,Dominant beta-thalassemia,alpha thalassemia,Hb SS disease,Erythrocytosis, familial, 6,Heinz body anemia,Beta-thalassemia HBB/LCRB unknown Detail
Pathogenic 2021-10-08 criteria provided, single submitter Malaria, susceptibility to,Hereditary persistence of fetal hemoglobin,Methemoglobinemia, beta-globin type,Dominant beta-thalassemia,alpha thalassemia,Hb SS disease,Erythrocytosis, familial, 6,Heinz body anemia,Beta-thalassemia HBB/LCRB unknown Detail
Pathogenic 2021-10-08 criteria provided, single submitter Malaria, susceptibility to,Hereditary persistence of fetal hemoglobin,Methemoglobinemia, beta-globin type,Dominant beta-thalassemia,alpha thalassemia,Hb SS disease,Erythrocytosis, familial, 6,Heinz body anemia,Beta-thalassemia HBB/LCRB unknown Detail
Pathogenic 2021-10-08 criteria provided, single submitter Malaria, susceptibility to,Hereditary persistence of fetal hemoglobin,Methemoglobinemia, beta-globin type,Dominant beta-thalassemia,alpha thalassemia,Hb SS disease,Erythrocytosis, familial, 6,Heinz body anemia,Beta-thalassemia HBB/LCRB unknown Detail
Pathogenic 2021-10-08 criteria provided, single submitter Malaria, susceptibility to,Hereditary persistence of fetal hemoglobin,Methemoglobinemia, beta-globin type,Dominant beta-thalassemia,alpha thalassemia,Hb SS disease,Erythrocytosis, familial, 6,Heinz body anemia,Beta-thalassemia HBB/LCRB unknown Detail
Pathogenic 2021-10-08 criteria provided, single submitter Malaria, susceptibility to,Hereditary persistence of fetal hemoglobin,Methemoglobinemia, beta-globin type,Dominant beta-thalassemia,alpha thalassemia,Hb SS disease,Erythrocytosis, familial, 6,Heinz body anemia,Beta-thalassemia HBB/LCRB unknown Detail
Pathogenic criteria provided, multiple submitters, no conflicts Beta-thalassemia HBB/LCRB germline Detail
Uncertain significance 2024-03-29 criteria provided, single submitter Malaria, susceptibility to germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_000518.5(HBB):c.27dup (p.Ser10fs) AND Beta zero thalassemia ClinVar Detail
NM_000518.5(HBB):c.27dup (p.Ser10fs) AND beta Thalassemia ClinVar Detail
NM_000518.5(HBB):c.27dup (p.Ser10fs) AND HBB-related disorder ClinVar Detail
NM_000518.5(HBB):c.27dup (p.Ser10fs) AND not provided ClinVar Detail
NM_000518.5(HBB):c.27dup (p.Ser10fs) AND Hb SS disease ClinVar Detail
NM_000518.5(HBB):c.27dup (p.Ser10fs) AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.27dup (p.Ser10fs) AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.27dup (p.Ser10fs) AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.27dup (p.Ser10fs) AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.27dup (p.Ser10fs) AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.27dup (p.Ser10fs) AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.27dup (p.Ser10fs) AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.27dup (p.Ser10fs) AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.27dup (p.Ser10fs) AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.27dup (p.Ser10fs) AND Beta-thalassemia HBB/LCRB ClinVar Detail
NM_000518.5(HBB):c.27dup (p.Ser10fs) AND Malaria, susceptibility to ClinVar 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
rs35699606 dbSNP
Genome
hg19
Position
chr11:5,248,226-5,248,226
Variant Type
snv
Reference Allele
-
Alternative Allele
C
East Asian Chromosome Counts (ExAC)
8618
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)
121344
Allele Counts in All Race (ExAC)
34
Heterozygous Counts in All Race (ExAC)
34
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.801951476793249E-4
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