chr11:5226940:C>A Detail (hg38) (HBB, LOC106099062, LOC107133510)

Information

Genome

Assembly Position
hg19 chr11:5,248,170-5,248,170 View the variant detail on this assembly version.
hg38 chr11:5,226,940-5,226,940

HGVS

Type Transcript Protein
RefSeq NM_000518.4:c.82G>T NP_000509.1:p.Ala28Ser
Ensemble ENST00000335295.4:c.82G>T ENST00000335295.4:p.Ala28Ser
ENST00000485743.1:c.82G>T ENST00000485743.1:p.Ala28Ser
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
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
Pathogenic 1989-01-01 no assertion criteria provided Beta-plus-thalassemia germline Detail
Pathogenic 1989-01-01 no assertion criteria provided Beta-Knossos-thalassemia germline Detail
Pathogenic Likely pathogenic 2021-07-22 criteria provided, multiple submitters, no conflicts beta thalassemia germline unknown Detail
Pathogenic 2023-10-25 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2018-05-02 criteria provided, single submitter hemoglobinopathy germline Detail
Pathogenic criteria provided, single submitter Hb SS disease germline Detail
Pathogenic 2024-04-04 criteria provided, single submitter Malaria, susceptibility to 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.82G>T (p.Ala28Ser) AND HEMOGLOBIN KNOSSOS ClinVar Detail
NM_000518.5(HBB):c.82G>T (p.Ala28Ser) AND Beta-plus-thalassemia ClinVar Detail
NM_000518.5(HBB):c.82G>T (p.Ala28Ser) AND Beta-Knossos-thalassemia ClinVar Detail
NM_000518.5(HBB):c.82G>T (p.Ala28Ser) AND beta Thalassemia ClinVar Detail
NM_000518.5(HBB):c.82G>T (p.Ala28Ser) AND not provided ClinVar Detail
NM_000518.5(HBB):c.82G>T (p.Ala28Ser) AND Hemoglobinopathy ClinVar Detail
NM_000518.5(HBB):c.82G>T (p.Ala28Ser) AND Hb SS disease ClinVar Detail
NM_000518.5(HBB):c.82G>T (p.Ala28Ser) AND Malaria, susceptibility to ClinVar 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
rs35424040 dbSNP
Genome
hg38
Position
chr11:5,226,940-5,226,940
Variant Type
snv
Reference Allele
C
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)
121356
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.240218860212928E-6
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