chr11:5248232:T>A Detail (hg19) (HBB, LOC106099062, LOC107133510, LOC110006319)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chr11:5,248,232-5,248,232
hg38	chr11:5,227,002-5,227,002 View the variant detail on this assembly version.

HGVS

Type	Transcript	Protein
RefSeq	NM_000518.4:c.20A>T	NP_000509.1:p.Glu7Val
Ensemble	ENST00000647020.1:c.20A>T	ENST00000647020.1:p.Glu7Val
	ENST00000485743.1:c.20A>T	ENST00000485743.1:p.Glu7Val
	ENST00000335295.4:c.20A>T	ENST00000335295.4:p.Glu7Val

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
other	2017-12-12	no assertion criteria provided		germline	Detail
other	2019-11-14	no assertion criteria provided		germline	Detail
Pathogenic	2024-04-22	criteria provided, multiple submitters, no conflicts	Hb SS disease	biparental germline maternal paternal unknown	Detail
protective	2011-12-02	no assertion criteria provided	Malaria, resistance to	germline	Detail
Pathogenic	1997-06-01	no assertion criteria provided	HEMOGLOBIN S (ANTILLES)	germline	Detail
Pathogenic	1999-04-01	no assertion criteria provided	Sickle cell-Hemoglobin O Arab disease	germline	Detail
Pathogenic	1988-10-01	no assertion criteria provided	HEMOGLOBIN S (PROVIDENCE)	germline	Detail
Pathogenic	1992-01-01	no assertion criteria provided	HEMOGLOBIN S (TRAVIS)	germline	Detail
Pathogenic	2004-05-01	no assertion criteria provided	HEMOGLOBIN S (CAMEROON)	germline	Detail
other	2017-12-12	no assertion criteria provided		germline	Detail
other	2017-12-12	no assertion criteria provided		germline	Detail
Pathogenic	2024-04-01	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2016-02-23	no assertion criteria provided	Heinz body anemia,Fetal hemoglobin quantitative trait locus 1,Hb SS disease,Dominant beta-thalassemia,Malaria, susceptibility to,beta thalassemia	germline	Detail
Pathogenic	2016-02-23	no assertion criteria provided	Heinz body anemia,Fetal hemoglobin quantitative trait locus 1,Hb SS disease,Dominant beta-thalassemia,Malaria, susceptibility to,beta thalassemia	germline	Detail
Pathogenic	2016-02-23	no assertion criteria provided	Heinz body anemia,Fetal hemoglobin quantitative trait locus 1,Hb SS disease,Dominant beta-thalassemia,Malaria, susceptibility to,beta thalassemia	germline	Detail
Pathogenic	2016-02-23	no assertion criteria provided	Heinz body anemia,Fetal hemoglobin quantitative trait locus 1,Hb SS disease,Dominant beta-thalassemia,Malaria, susceptibility to,beta thalassemia	germline	Detail
Pathogenic	2016-02-23	no assertion criteria provided	Heinz body anemia,Fetal hemoglobin quantitative trait locus 1,Hb SS disease,Dominant beta-thalassemia,Malaria, susceptibility to,beta thalassemia	germline	Detail
Pathogenic	2016-02-23	no assertion criteria provided	Heinz body anemia,Fetal hemoglobin quantitative trait locus 1,Hb SS disease,Dominant beta-thalassemia,Malaria, susceptibility to,beta thalassemia	germline	Detail
Pathogenic	2019-10-18	criteria provided, multiple submitters, no conflicts	beta thalassemia	germline paternal unknown	Detail
Pathogenic	2023-10-13	criteria provided, single submitter	Inborn genetic diseases	germline	Detail
Pathogenic	2018-07-19	no assertion criteria provided	Fetal hemoglobin quantitative trait locus 1	germline	Detail
Pathogenic	2019-10-14	criteria provided, single submitter	Sickle cell disease and related diseases	germline	Detail
Pathogenic	2020-01-16	no assertion criteria provided	anemia	germline	Detail
Pathogenic	2021-06-30	criteria provided, single submitter	Hb SS disease,Erythrocytosis, familial, 6,Fetal hemoglobin quantitative trait locus 1,Methemoglobinemia, beta-globin type,Heinz body anemia,beta thalassemia,Malaria, susceptibility to,alpha thalassemia,Dominant beta-thalassemia	unknown	Detail
Pathogenic	2021-06-30	criteria provided, single submitter	Hb SS disease,Erythrocytosis, familial, 6,Fetal hemoglobin quantitative trait locus 1,Methemoglobinemia, beta-globin type,Heinz body anemia,beta thalassemia,Malaria, susceptibility to,alpha thalassemia,Dominant beta-thalassemia	unknown	Detail
Pathogenic	2021-06-30	criteria provided, single submitter	Hb SS disease,Erythrocytosis, familial, 6,Fetal hemoglobin quantitative trait locus 1,Methemoglobinemia, beta-globin type,Heinz body anemia,beta thalassemia,Malaria, susceptibility to,alpha thalassemia,Dominant beta-thalassemia	unknown	Detail
Pathogenic	2021-06-30	criteria provided, single submitter	Hb SS disease,Erythrocytosis, familial, 6,Fetal hemoglobin quantitative trait locus 1,Methemoglobinemia, beta-globin type,Heinz body anemia,beta thalassemia,Malaria, susceptibility to,alpha thalassemia,Dominant beta-thalassemia	unknown	Detail
Pathogenic	2021-06-30	criteria provided, single submitter	Hb SS disease,Erythrocytosis, familial, 6,Fetal hemoglobin quantitative trait locus 1,Methemoglobinemia, beta-globin type,Heinz body anemia,beta thalassemia,Malaria, susceptibility to,alpha thalassemia,Dominant beta-thalassemia	unknown	Detail
Pathogenic	2021-06-30	criteria provided, single submitter	Hb SS disease,Erythrocytosis, familial, 6,Fetal hemoglobin quantitative trait locus 1,Methemoglobinemia, beta-globin type,Heinz body anemia,beta thalassemia,Malaria, susceptibility to,alpha thalassemia,Dominant beta-thalassemia	unknown	Detail
Pathogenic	2021-06-30	criteria provided, single submitter	Hb SS disease,Erythrocytosis, familial, 6,Fetal hemoglobin quantitative trait locus 1,Methemoglobinemia, beta-globin type,Heinz body anemia,beta thalassemia,Malaria, susceptibility to,alpha thalassemia,Dominant beta-thalassemia	unknown	Detail
Pathogenic	2021-06-30	criteria provided, single submitter	Hb SS disease,Erythrocytosis, familial, 6,Fetal hemoglobin quantitative trait locus 1,Methemoglobinemia, beta-globin type,Heinz body anemia,beta thalassemia,Malaria, susceptibility to,alpha thalassemia,Dominant beta-thalassemia	unknown	Detail
Pathogenic	2021-06-30	criteria provided, single submitter	Hb SS disease,Erythrocytosis, familial, 6,Fetal hemoglobin quantitative trait locus 1,Methemoglobinemia, beta-globin type,Heinz body anemia,beta thalassemia,Malaria, susceptibility to,alpha thalassemia,Dominant beta-thalassemia	unknown	Detail
Pathogenic	2024-01-14	criteria provided, multiple submitters, no conflicts	HBB-related disorder	germline unknown	Detail
Pathogenic	2022-01-06	criteria provided, single submitter		germline	Detail
Pathogenic	2022-07-22	criteria provided, multiple submitters, no conflicts	Beta-thalassemia HBB/LCRB	germline	Detail
Pathogenic	2023-02-17	criteria provided, single submitter	Sickle cell-hemoglobin C disease	germline	Detail
Pathogenic	2024-03-25	criteria provided, single submitter	Malaria, susceptibility to	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
<0.001	anemia	Meanwhile, individuals with the hHbS rs334 TT, IL10 rs3024500 AA, and IL17RD rs6...	BeFree	24312262	Detail
<0.001	Sickle Cell Trait	The objective was to investigate whether haptoglobin (Hp) haplotypes constructed...	BeFree	20552021	Detail
0.120	Sickle cell-Hemoglobin O Arab disease	NA	CLINVAR		Detail
0.120	Malaria, resistance to	NA	CLINVAR		Detail
<0.001	anemia	Furthermore, IL17RE rs708567 GA and hHbS rs334 AT individuals were associated wi...	BeFree	24312262	Detail
<0.001	Sickle Cell Trait	The objective was to investigate whether haptoglobin (Hp) haplotypes constructed...	BeFree	20552021	Detail
0.578	Anemia, Sickle Cell	NA	CLINVAR		Detail
<0.001	malaria	Furthermore, IL17RE rs708567 GA and hHbS rs334 AT individuals were associated wi...	BeFree	24312262	Detail
0.578	Anemia, Sickle Cell	Gene mutations in human haemoglobin: the chemical difference between normal and ...	UNIPROT	13464827	Detail
<0.001	trachoma	The objective was to investigate whether haptoglobin (Hp) haplotypes constructed...	BeFree	20552021	Detail
0.099	anemia	Hb S-São Paulo (SP) [HBB:c.20A>T p.Glu6Val; c.196A>G p.Lys65Glu] is a new ...	BeFree	22244832	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000518.4(HBB):c.[20A>T;220G>A] AND HEMOGLOBIN ZIGUINCHOR	ClinVar	Detail
NM_000518.5(HBB):c.20A>T (p.Glu7Val) AND HEMOGLOBIN S	ClinVar	Detail
NM_000518.5(HBB):c.20A>T (p.Glu7Val) AND Hb SS disease	ClinVar	Detail
NM_000518.5(HBB):c.20A>T (p.Glu7Val) AND Malaria, resistance to	ClinVar	Detail
NM_000518.4(HBB):c.[20A>T;70G>A] AND HEMOGLOBIN S (ANTILLES)	ClinVar	Detail
NM_000518.4(HBB):c.[20A>T;364G>A] AND Sickle cell-Hemoglobin O Arab disease	ClinVar	Detail
NM_000518.4(HBB):c.[20A>T;249G>Y] AND HEMOGLOBIN S (PROVIDENCE)	ClinVar	Detail
NM_000518.4(HBB):c.[20A>T;428C>T] AND HEMOGLOBIN S (TRAVIS)	ClinVar	Detail
NM_000518.4(HBB):c.[20A>T;271G>A] AND HEMOGLOBIN S (CAMEROON)	ClinVar	Detail
NM_000518.4(HBB):c.[205C>T;20A>T] AND HEMOGLOBIN JAMAICA PLAIN	ClinVar	Detail
NM_000518.4(HBB):c.[176C>G;20A>T] AND HEMOGLOBIN ZIGUINCHOR	ClinVar	Detail
NM_000518.5(HBB):c.20A>T (p.Glu7Val) AND not provided	ClinVar	Detail
NM_000518.5(HBB):c.20A>T (p.Glu7Val) AND multiple conditions	ClinVar	Detail
NM_000518.5(HBB):c.20A>T (p.Glu7Val) AND multiple conditions	ClinVar	Detail
NM_000518.5(HBB):c.20A>T (p.Glu7Val) AND multiple conditions	ClinVar	Detail
NM_000518.5(HBB):c.20A>T (p.Glu7Val) AND multiple conditions	ClinVar	Detail
NM_000518.5(HBB):c.20A>T (p.Glu7Val) AND multiple conditions	ClinVar	Detail
NM_000518.5(HBB):c.20A>T (p.Glu7Val) AND multiple conditions	ClinVar	Detail
NM_000518.5(HBB):c.20A>T (p.Glu7Val) AND beta Thalassemia	ClinVar	Detail
NM_000518.5(HBB):c.20A>T (p.Glu7Val) AND Inborn genetic diseases	ClinVar	Detail
NM_000518.5(HBB):c.20A>T (p.Glu7Val) AND Fetal hemoglobin quantitative trait locus 1	ClinVar	Detail
NM_000518.5(HBB):c.20A>T (p.Glu7Val) AND Sickle cell disease and related diseases	ClinVar	Detail
NM_000518.5(HBB):c.20A>T (p.Glu7Val) AND Anemia	ClinVar	Detail
NM_000518.5(HBB):c.20A>T (p.Glu7Val) AND multiple conditions	ClinVar	Detail
NM_000518.5(HBB):c.20A>T (p.Glu7Val) AND multiple conditions	ClinVar	Detail
NM_000518.5(HBB):c.20A>T (p.Glu7Val) AND multiple conditions	ClinVar	Detail
NM_000518.5(HBB):c.20A>T (p.Glu7Val) AND multiple conditions	ClinVar	Detail
NM_000518.5(HBB):c.20A>T (p.Glu7Val) AND multiple conditions	ClinVar	Detail
NM_000518.5(HBB):c.20A>T (p.Glu7Val) AND multiple conditions	ClinVar	Detail
NM_000518.5(HBB):c.20A>T (p.Glu7Val) AND multiple conditions	ClinVar	Detail
NM_000518.5(HBB):c.20A>T (p.Glu7Val) AND multiple conditions	ClinVar	Detail
NM_000518.5(HBB):c.20A>T (p.Glu7Val) AND multiple conditions	ClinVar	Detail
NM_000518.5(HBB):c.20A>T (p.Glu7Val) AND HBB-related disorder	ClinVar	Detail
NM_000518.5(HBB):c.20A>T (p.Glu7Val) AND See cases	ClinVar	Detail
NM_000518.5(HBB):c.20A>T (p.Glu7Val) AND Beta-thalassemia HBB/LCRB	ClinVar	Detail
NM_000518.5(HBB):c.20A>T (p.Glu7Val) AND Sickle cell-hemoglobin C disease	ClinVar	Detail
NM_000518.5(HBB):c.20A>T (p.Glu7Val) AND Malaria, susceptibility to	ClinVar	Detail
Meanwhile, individuals with the hHbS rs334 TT, IL10 rs3024500 AA, and IL17RD rs6780995 GA genotypes ...	DisGeNET	Detail
The objective was to investigate whether haptoglobin (Hp) haplotypes constructed from the functional...	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Furthermore, IL17RE rs708567 GA and hHbS rs334 AT individuals were associated with protection from u...	DisGeNET	Detail
The objective was to investigate whether haptoglobin (Hp) haplotypes constructed from the functional...	DisGeNET	Detail
NA	DisGeNET	Detail
Furthermore, IL17RE rs708567 GA and hHbS rs334 AT individuals were associated with protection from u...	DisGeNET	Detail
Gene mutations in human haemoglobin: the chemical difference between normal and sickle cell haemoglo...	DisGeNET	Detail
The objective was to investigate whether haptoglobin (Hp) haplotypes constructed from the functional...	DisGeNET	Detail
Hb S-São Paulo (SP) [HBB:c.20A>T p.Glu6Val; c.196A>G p.Lys65Glu] is a new double-mutant hemogl...	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: rs334 dbSNP
Genome: hg19
Position: chr11:5,248,232-5,248,232
Variant Type: snv
Reference Allele: T
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8620
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): 121340
Allele Counts in All Race (ExAC): 532
Heterozygous Counts in All Race (ExAC): 530
Homozygous Counts in All Race (ExAC): 1
Allele Frequency in All Race (ExAC): 0.004384374484918411

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