chr11:5248155:C>G Detail (hg19) (HBB, LOC106099062, LOC107133510)

Information

Genome

Assembly Position
hg19 chr11:5,248,155-5,248,155
hg38 chr11:5,226,925-5,226,925 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000518.4:c.92+5G>C
Ensemble ENST00000647020.1:c.92+5G>C
ENST00000335295.4:c.92+5G>C
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
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 2018-01-01 no assertion criteria provided Beta-plus-thalassemia germline Detail
Pathogenic 2022-11-03 criteria provided, multiple submitters, no conflicts beta thalassemia germline paternal unknown Detail
Pathogenic 2024-01-25 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2018-10-31 criteria provided, single submitter Erythrocytosis, familial, 6,beta thalassemia,alpha thalassemia,Fetal hemoglobin quantitative trait locus 1,Hb SS disease,Heinz body anemia,Methemoglobinemia, beta-globin type,Malaria, susceptibility to,Dominant beta-thalassemia unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Erythrocytosis, familial, 6,beta thalassemia,alpha thalassemia,Fetal hemoglobin quantitative trait locus 1,Hb SS disease,Heinz body anemia,Methemoglobinemia, beta-globin type,Malaria, susceptibility to,Dominant beta-thalassemia unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Erythrocytosis, familial, 6,beta thalassemia,alpha thalassemia,Fetal hemoglobin quantitative trait locus 1,Hb SS disease,Heinz body anemia,Methemoglobinemia, beta-globin type,Malaria, susceptibility to,Dominant beta-thalassemia unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Erythrocytosis, familial, 6,beta thalassemia,alpha thalassemia,Fetal hemoglobin quantitative trait locus 1,Hb SS disease,Heinz body anemia,Methemoglobinemia, beta-globin type,Malaria, susceptibility to,Dominant beta-thalassemia unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Erythrocytosis, familial, 6,beta thalassemia,alpha thalassemia,Fetal hemoglobin quantitative trait locus 1,Hb SS disease,Heinz body anemia,Methemoglobinemia, beta-globin type,Malaria, susceptibility to,Dominant beta-thalassemia unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Erythrocytosis, familial, 6,beta thalassemia,alpha thalassemia,Fetal hemoglobin quantitative trait locus 1,Hb SS disease,Heinz body anemia,Methemoglobinemia, beta-globin type,Malaria, susceptibility to,Dominant beta-thalassemia unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Erythrocytosis, familial, 6,beta thalassemia,alpha thalassemia,Fetal hemoglobin quantitative trait locus 1,Hb SS disease,Heinz body anemia,Methemoglobinemia, beta-globin type,Malaria, susceptibility to,Dominant beta-thalassemia unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Erythrocytosis, familial, 6,beta thalassemia,alpha thalassemia,Fetal hemoglobin quantitative trait locus 1,Hb SS disease,Heinz body anemia,Methemoglobinemia, beta-globin type,Malaria, susceptibility to,Dominant beta-thalassemia unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Erythrocytosis, familial, 6,beta thalassemia,alpha thalassemia,Fetal hemoglobin quantitative trait locus 1,Hb SS disease,Heinz body anemia,Methemoglobinemia, beta-globin type,Malaria, susceptibility to,Dominant beta-thalassemia unknown Detail
Pathogenic criteria provided, multiple submitters, no conflicts Hb SS disease germline Detail
Pathogenic 2021-02-16 criteria provided, single submitter beta-thalassemia major germline Detail
Pathogenic 2022-08-09 criteria provided, multiple submitters, no conflicts Beta-thalassemia HBB/LCRB germline Detail
Pathogenic 2017-04-13 criteria provided, single submitter Inborn genetic diseases germline Detail
Pathogenic criteria provided, single submitter Hereditary persistence of fetal hemoglobin germline Detail
Pathogenic 2024-03-17 criteria provided, single submitter Malaria, susceptibility to germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.287 alpha-Thalassemia NA CLINVAR Detail
0.672 beta thalassemia NA CLINVAR Detail
0.120 beta thalassemia major anemia NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000518.5(HBB):c.92+5G>C AND Beta-plus-thalassemia ClinVar Detail
NM_000518.5(HBB):c.92+5G>C AND beta Thalassemia ClinVar Detail
NM_000518.5(HBB):c.92+5G>C AND not provided ClinVar Detail
NM_000518.5(HBB):c.92+5G>C AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.92+5G>C AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.92+5G>C AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.92+5G>C AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.92+5G>C AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.92+5G>C AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.92+5G>C AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.92+5G>C AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.92+5G>C AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.92+5G>C AND Hb SS disease ClinVar Detail
NM_000518.5(HBB):c.92+5G>C AND Beta-thalassemia major ClinVar Detail
NM_000518.5(HBB):c.92+5G>C AND Beta-thalassemia HBB/LCRB ClinVar Detail
NM_000518.5(HBB):c.92+5G>C AND Inborn genetic diseases ClinVar Detail
NM_000518.5(HBB):c.92+5G>C AND Hereditary persistence of fetal hemoglobin ClinVar Detail
NM_000518.5(HBB):c.92+5G>C AND Malaria, susceptibility to ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs33915217 dbSNP
Genome
hg19
Position
chr11:5,248,155-5,248,155
Variant Type
snv
Reference Allele
C
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8612
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)
121280
Allele Counts in All Race (ExAC)
87
Heterozygous Counts in All Race (ExAC)
87
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
7.173482849604222E-4
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