chr11:5226988:C>T Detail (hg38) (HBB, LOC106099062, LOC107133510, LOC110006319)

Information

Genome

Assembly Position
hg19 chr11:5,248,218-5,248,218 View the variant detail on this assembly version.
hg38 chr11:5,226,988-5,226,988

HGVS

Type Transcript Protein
RefSeq NM_000518.4:c.34G>A NP_000509.1:p.Val12Ile
Ensemble ENST00000335295.4:c.34G>A ENST00000335295.4:p.Val12Ile
ENST00000485743.1:c.34G>A ENST00000485743.1:p.Val12Ile
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 Uncertain significance
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 tgv216175128 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
other 2017-12-12 no assertion criteria provided germline Detail
Uncertain significance 2023-04-25 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Uncertain significance 2017-04-28 criteria provided, single submitter beta thalassemia germline Detail
Uncertain significance 2017-04-28 criteria provided, single submitter Fetal hemoglobin quantitative trait locus 1 germline Detail
Uncertain significance 2017-04-28 criteria provided, single submitter Hb SS disease germline Detail
Uncertain significance 2017-04-28 criteria provided, single submitter germline Detail
Uncertain significance 2023-12-15 criteria provided, single submitter not specified germline Detail
Uncertain significance 2022-05-03 criteria provided, single submitter Heinz body anemia,Dominant beta-thalassemia,Beta-thalassemia HBB/LCRB,Malaria, susceptibility to,Hereditary persistence of fetal hemoglobin,Hb SS disease,alpha thalassemia,Methemoglobinemia, beta-globin type,Erythrocytosis, familial, 6 unknown Detail
Uncertain significance 2022-05-03 criteria provided, single submitter Heinz body anemia,Dominant beta-thalassemia,Beta-thalassemia HBB/LCRB,Malaria, susceptibility to,Hereditary persistence of fetal hemoglobin,Hb SS disease,alpha thalassemia,Methemoglobinemia, beta-globin type,Erythrocytosis, familial, 6 unknown Detail
Uncertain significance 2022-05-03 criteria provided, single submitter Heinz body anemia,Dominant beta-thalassemia,Beta-thalassemia HBB/LCRB,Malaria, susceptibility to,Hereditary persistence of fetal hemoglobin,Hb SS disease,alpha thalassemia,Methemoglobinemia, beta-globin type,Erythrocytosis, familial, 6 unknown Detail
Uncertain significance 2022-05-03 criteria provided, single submitter Heinz body anemia,Dominant beta-thalassemia,Beta-thalassemia HBB/LCRB,Malaria, susceptibility to,Hereditary persistence of fetal hemoglobin,Hb SS disease,alpha thalassemia,Methemoglobinemia, beta-globin type,Erythrocytosis, familial, 6 unknown Detail
Uncertain significance 2022-05-03 criteria provided, single submitter Heinz body anemia,Dominant beta-thalassemia,Beta-thalassemia HBB/LCRB,Malaria, susceptibility to,Hereditary persistence of fetal hemoglobin,Hb SS disease,alpha thalassemia,Methemoglobinemia, beta-globin type,Erythrocytosis, familial, 6 unknown Detail
Uncertain significance 2022-05-03 criteria provided, single submitter Heinz body anemia,Dominant beta-thalassemia,Beta-thalassemia HBB/LCRB,Malaria, susceptibility to,Hereditary persistence of fetal hemoglobin,Hb SS disease,alpha thalassemia,Methemoglobinemia, beta-globin type,Erythrocytosis, familial, 6 unknown Detail
Uncertain significance 2022-05-03 criteria provided, single submitter Heinz body anemia,Dominant beta-thalassemia,Beta-thalassemia HBB/LCRB,Malaria, susceptibility to,Hereditary persistence of fetal hemoglobin,Hb SS disease,alpha thalassemia,Methemoglobinemia, beta-globin type,Erythrocytosis, familial, 6 unknown Detail
Uncertain significance 2022-05-03 criteria provided, single submitter Heinz body anemia,Dominant beta-thalassemia,Beta-thalassemia HBB/LCRB,Malaria, susceptibility to,Hereditary persistence of fetal hemoglobin,Hb SS disease,alpha thalassemia,Methemoglobinemia, beta-globin type,Erythrocytosis, familial, 6 unknown Detail
Uncertain significance 2022-05-03 criteria provided, single submitter Heinz body anemia,Dominant beta-thalassemia,Beta-thalassemia HBB/LCRB,Malaria, susceptibility to,Hereditary persistence of fetal hemoglobin,Hb SS disease,alpha thalassemia,Methemoglobinemia, beta-globin type,Erythrocytosis, familial, 6 unknown Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_000518.4(HBB):c.34G>A (p.Val12Ile) AND HEMOGLOBIN HAMILTON ClinVar Detail
NM_000518.4(HBB):c.[34G>A;364G>A] AND HEMOGLOBIN O (TIBESTI) ClinVar Detail
NM_000518.4(HBB):c.34G>A (p.Val12Ile) AND not provided ClinVar Detail
NM_000518.4(HBB):c.34G>A (p.Val12Ile) AND beta Thalassemia ClinVar Detail
NM_000518.4(HBB):c.34G>A (p.Val12Ile) AND Fetal hemoglobin quantitative trait locus 1 ClinVar Detail
NM_000518.4(HBB):c.34G>A (p.Val12Ile) AND Hb SS disease ClinVar Detail
NM_000518.4(HBB):c.34G>A (p.Val12Ile) AND Hemoglobin E ClinVar Detail
NM_000518.4(HBB):c.34G>A (p.Val12Ile) AND not specified ClinVar Detail
NM_000518.4(HBB):c.34G>A (p.Val12Ile) AND multiple conditions ClinVar Detail
NM_000518.4(HBB):c.34G>A (p.Val12Ile) AND multiple conditions ClinVar Detail
NM_000518.4(HBB):c.34G>A (p.Val12Ile) AND multiple conditions ClinVar Detail
NM_000518.4(HBB):c.34G>A (p.Val12Ile) AND multiple conditions ClinVar Detail
NM_000518.4(HBB):c.34G>A (p.Val12Ile) AND multiple conditions ClinVar Detail
NM_000518.4(HBB):c.34G>A (p.Val12Ile) AND multiple conditions ClinVar Detail
NM_000518.4(HBB):c.34G>A (p.Val12Ile) AND multiple conditions ClinVar Detail
NM_000518.4(HBB):c.34G>A (p.Val12Ile) AND multiple conditions ClinVar Detail
NM_000518.4(HBB):c.34G>A (p.Val12Ile) AND multiple conditions 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
rs33974228 dbSNP
Genome
hg38
Position
chr11:5,226,988-5,226,988
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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)
121356
Allele Counts in All Race (ExAC)
6
Heterozygous Counts in All Race (ExAC)
6
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
4.9441313161277566E-5
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