chr11:5225678:C>G Detail (hg38) (HBB, LOC106099062, LOC107133510, LOC110006319)

Information

Genome

Assembly Position
hg19 chr11:5,246,908-5,246,908 View the variant detail on this assembly version.
hg38 chr11:5,225,678-5,225,678

HGVS

Type Transcript Protein
RefSeq NM_000518.4:c.364G>C NP_000509.1:p.Glu122Gln
Ensemble ENST00000335295.4:c.364G>C ENST00000335295.4:p.Glu122Gln
ENST00000647020.1:c.364G>C ENST00000647020.1:p.Glu122Gln
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 Likely 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 tgv371136645 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 2016-07-20 no assertion criteria provided germline Detail
other 2017-12-12 no assertion criteria provided germline Detail
other 2017-12-12 no assertion criteria provided germline Detail
Pathogenic Likely pathogenic 2022-11-03 criteria provided, multiple submitters, no conflicts beta thalassemia unknown germline Detail
Pathogenic Likely pathogenic 2021-05-18 criteria provided, multiple submitters, no conflicts Hb SS disease germline Detail
Pathogenic Likely pathogenic 2024-01-29 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Likely pathogenic 2019-01-12 criteria provided, single submitter HBB-related disorder germline Detail
Pathogenic 2019-10-18 criteria provided, single submitter hemoglobin D disease germline Detail
Pathogenic 2022-05-04 criteria provided, single submitter Heinz body anemia germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.672 beta thalassemia NA CLINVAR Detail
0.360 Beta Thalassemia, Dominant Inclusion Body Type NA CLINVAR Detail
0.120 Sickle cell-Hemoglobin O Arab disease NA CLINVAR Detail
0.578 Anemia, Sickle Cell NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) AND Hb D-Los Angeles ClinVar Detail
NM_000518.4(HBB):c.[364G>C;79G>A] AND HEMOGLOBIN T (CAMBODIA) ClinVar Detail
NM_000518.4(HBB):c.[280T>C;364G>C] AND HEMOGLOBIN CLEVELAND ClinVar Detail
NM_000518.4(HBB):c.[29C>A;364G>C] AND HEMOGLOBIN D (AGRI) ClinVar Detail
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) AND beta Thalassemia ClinVar Detail
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) AND Hb SS disease ClinVar Detail
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) AND not provided ClinVar Detail
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) AND HBB-related disorder ClinVar Detail
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) AND Hemoglobin D disease ClinVar Detail
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) AND Heinz body anemia ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET 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
rs33946267 dbSNP
Genome
hg38
Position
chr11:5,225,678-5,225,678
Variant Type
snv
Reference Allele
C
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8636
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)
121384
Allele Counts in All Race (ExAC)
85
Heterozygous Counts in All Race (ExAC)
83
Homozygous Counts in All Race (ExAC)
1
Allele Frequency in All Race (ExAC)
7.002570355236275E-4
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