chr11:5248158:A>G Detail (hg19) (HBB, LOC106099062, LOC107133510)

Information

Genome

Assembly Position
hg19 chr11:5,248,158-5,248,158
hg38 chr11:5,226,928-5,226,928 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000518.4:c.92+2T>C
Ensemble ENST00000485743.1:c.92+2T>C
ENST00000335295.4:c.92+2T>C
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 2021-07-08 criteria provided, single submitter beta thalassemia germline Detail
Pathogenic 2023-11-03 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2021-09-10 criteria provided, single submitter Heinz body anemia,Methemoglobinemia, beta-globin type,Hereditary persistence of fetal hemoglobin,alpha thalassemia,Dominant beta-thalassemia,Malaria, susceptibility to,Erythrocytosis, familial, 6,Hb SS disease,Beta-thalassemia HBB/LCRB unknown Detail
Pathogenic 2021-09-10 criteria provided, single submitter Heinz body anemia,Methemoglobinemia, beta-globin type,Hereditary persistence of fetal hemoglobin,alpha thalassemia,Dominant beta-thalassemia,Malaria, susceptibility to,Erythrocytosis, familial, 6,Hb SS disease,Beta-thalassemia HBB/LCRB unknown Detail
Pathogenic 2021-09-10 criteria provided, single submitter Heinz body anemia,Methemoglobinemia, beta-globin type,Hereditary persistence of fetal hemoglobin,alpha thalassemia,Dominant beta-thalassemia,Malaria, susceptibility to,Erythrocytosis, familial, 6,Hb SS disease,Beta-thalassemia HBB/LCRB unknown Detail
Pathogenic 2021-09-10 criteria provided, single submitter Heinz body anemia,Methemoglobinemia, beta-globin type,Hereditary persistence of fetal hemoglobin,alpha thalassemia,Dominant beta-thalassemia,Malaria, susceptibility to,Erythrocytosis, familial, 6,Hb SS disease,Beta-thalassemia HBB/LCRB unknown Detail
Pathogenic 2021-09-10 criteria provided, single submitter Heinz body anemia,Methemoglobinemia, beta-globin type,Hereditary persistence of fetal hemoglobin,alpha thalassemia,Dominant beta-thalassemia,Malaria, susceptibility to,Erythrocytosis, familial, 6,Hb SS disease,Beta-thalassemia HBB/LCRB unknown Detail
Pathogenic 2021-09-10 criteria provided, single submitter Heinz body anemia,Methemoglobinemia, beta-globin type,Hereditary persistence of fetal hemoglobin,alpha thalassemia,Dominant beta-thalassemia,Malaria, susceptibility to,Erythrocytosis, familial, 6,Hb SS disease,Beta-thalassemia HBB/LCRB unknown Detail
Pathogenic 2021-09-10 criteria provided, single submitter Heinz body anemia,Methemoglobinemia, beta-globin type,Hereditary persistence of fetal hemoglobin,alpha thalassemia,Dominant beta-thalassemia,Malaria, susceptibility to,Erythrocytosis, familial, 6,Hb SS disease,Beta-thalassemia HBB/LCRB unknown Detail
Pathogenic 2021-09-10 criteria provided, single submitter Heinz body anemia,Methemoglobinemia, beta-globin type,Hereditary persistence of fetal hemoglobin,alpha thalassemia,Dominant beta-thalassemia,Malaria, susceptibility to,Erythrocytosis, familial, 6,Hb SS disease,Beta-thalassemia HBB/LCRB unknown Detail
Pathogenic 2021-09-10 criteria provided, single submitter Heinz body anemia,Methemoglobinemia, beta-globin type,Hereditary persistence of fetal hemoglobin,alpha thalassemia,Dominant beta-thalassemia,Malaria, susceptibility to,Erythrocytosis, familial, 6,Hb SS disease,Beta-thalassemia HBB/LCRB unknown Detail
Pathogenic 1990-09-01 no assertion criteria provided Beta zero thalassemia germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.672 beta thalassemia NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000518.5(HBB):c.92+2T>C AND beta Thalassemia ClinVar Detail
NM_000518.5(HBB):c.92+2T>C AND not provided ClinVar Detail
NM_000518.5(HBB):c.92+2T>C AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.92+2T>C AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.92+2T>C AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.92+2T>C AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.92+2T>C AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.92+2T>C AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.92+2T>C AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.92+2T>C AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.92+2T>C AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.92+2T>C AND Beta zero thalassemia ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs33956879 dbSNP
Genome
hg19
Position
chr11:5,248,158-5,248,158
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Genome browser