chr11:5247919:AC> Detail (hg19) (HBB, LOC106099062, LOC107133510)

Information

Genome

Assembly Position
hg19 chr11:5,247,919-5,247,920
hg38 chr11:5,226,689-5,226,690 

HGVS

Type Transcript Protein
RefSeq NM_000518.4:c.202_203delGT NP_000509.1:p.Val68AlafsTer5
Ensemble ENST00000485743.1:c.202_203delGT ENST00000485743.1:p.Val68AlafsTer5
ENST00000335295.4:c.202_203delGT ENST00000335295.4:p.Val68AlafsTer5
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

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
Pathogenic 2023-12-24 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2023-08-21 criteria provided, single submitter beta thalassemia germline unknown Detail
Pathogenic 2021-11-24 criteria provided, single submitter Hereditary persistence of fetal hemoglobin,Dominant beta-thalassemia,Malaria, susceptibility to,Methemoglobinemia, beta-globin type,Erythrocytosis, familial, 6,alpha thalassemia,Hb SS disease,Heinz body anemia,Beta-thalassemia HBB/LCRB unknown Detail
Pathogenic 2021-11-24 criteria provided, single submitter Hereditary persistence of fetal hemoglobin,Dominant beta-thalassemia,Malaria, susceptibility to,Methemoglobinemia, beta-globin type,Erythrocytosis, familial, 6,alpha thalassemia,Hb SS disease,Heinz body anemia,Beta-thalassemia HBB/LCRB unknown Detail
Pathogenic 2021-11-24 criteria provided, single submitter Hereditary persistence of fetal hemoglobin,Dominant beta-thalassemia,Malaria, susceptibility to,Methemoglobinemia, beta-globin type,Erythrocytosis, familial, 6,alpha thalassemia,Hb SS disease,Heinz body anemia,Beta-thalassemia HBB/LCRB unknown Detail
Pathogenic 2021-11-24 criteria provided, single submitter Hereditary persistence of fetal hemoglobin,Dominant beta-thalassemia,Malaria, susceptibility to,Methemoglobinemia, beta-globin type,Erythrocytosis, familial, 6,alpha thalassemia,Hb SS disease,Heinz body anemia,Beta-thalassemia HBB/LCRB unknown Detail
Pathogenic 2021-11-24 criteria provided, single submitter Hereditary persistence of fetal hemoglobin,Dominant beta-thalassemia,Malaria, susceptibility to,Methemoglobinemia, beta-globin type,Erythrocytosis, familial, 6,alpha thalassemia,Hb SS disease,Heinz body anemia,Beta-thalassemia HBB/LCRB unknown Detail
Pathogenic 2021-11-24 criteria provided, single submitter Hereditary persistence of fetal hemoglobin,Dominant beta-thalassemia,Malaria, susceptibility to,Methemoglobinemia, beta-globin type,Erythrocytosis, familial, 6,alpha thalassemia,Hb SS disease,Heinz body anemia,Beta-thalassemia HBB/LCRB unknown Detail
Pathogenic 2021-11-24 criteria provided, single submitter Hereditary persistence of fetal hemoglobin,Dominant beta-thalassemia,Malaria, susceptibility to,Methemoglobinemia, beta-globin type,Erythrocytosis, familial, 6,alpha thalassemia,Hb SS disease,Heinz body anemia,Beta-thalassemia HBB/LCRB unknown Detail
Pathogenic 2021-11-24 criteria provided, single submitter Hereditary persistence of fetal hemoglobin,Dominant beta-thalassemia,Malaria, susceptibility to,Methemoglobinemia, beta-globin type,Erythrocytosis, familial, 6,alpha thalassemia,Hb SS disease,Heinz body anemia,Beta-thalassemia HBB/LCRB unknown Detail
Pathogenic 2021-11-24 criteria provided, single submitter Hereditary persistence of fetal hemoglobin,Dominant beta-thalassemia,Malaria, susceptibility to,Methemoglobinemia, beta-globin type,Erythrocytosis, familial, 6,alpha thalassemia,Hb SS disease,Heinz body anemia,Beta-thalassemia HBB/LCRB unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.120 beta thalassemia major anemia NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000518.5(HBB):c.203_204del (p.Val68fs) AND not provided ClinVar Detail
NM_000518.5(HBB):c.203_204del (p.Val68fs) AND beta Thalassemia ClinVar Detail
NM_000518.5(HBB):c.203_204del (p.Val68fs) AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.203_204del (p.Val68fs) AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.203_204del (p.Val68fs) AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.203_204del (p.Val68fs) AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.203_204del (p.Val68fs) AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.203_204del (p.Val68fs) AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.203_204del (p.Val68fs) AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.203_204del (p.Val68fs) AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.203_204del (p.Val68fs) AND multiple conditions ClinVar 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
rs34282684 dbSNP
Genome
hg19
Position
chr11:5,247,919-5,247,920
Variant Type
snv
Reference Allele
AC
Alternative Allele
-
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