chr11:5225923:G>A Detail (hg38) (HBB, LOC107133510, LOC110006319)

Information

Genome

Assembly Position
hg19 chr11:5,247,153-5,247,153 View the variant detail on this assembly version.
hg38 chr11:5,225,923-5,225,923

HGVS

Type Transcript Protein
RefSeq NM_000518.4:c.316-197C>T
Ensemble ENST00000335295.4:c.316-197C>T
ENST00000647020.1:c.316-197C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[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 tgv41451657 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1984-05-01 no assertion criteria provided Beta zero thalassemia germline Detail
Pathogenic 2019-12-09 criteria provided, single submitter beta thalassemia germline unknown Detail
Pathogenic 2011-08-18 criteria provided, single submitter beta-thalassemia major germline Detail
Pathogenic 2024-01-21 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic criteria provided, single submitter Hb SS disease germline Detail
Pathogenic 2023-12-20 criteria provided, single submitter HBB-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.287 alpha-Thalassemia NA CLINVAR Detail
0.127 beta^0^ Thalassemia NA CLINVAR Detail
0.120 beta thalassemia major anemia NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000518.5(HBB):c.316-197C>T AND Beta zero thalassemia ClinVar Detail
NM_000518.5(HBB):c.316-197C>T AND beta Thalassemia ClinVar Detail
NM_000518.5(HBB):c.316-197C>T AND Beta-thalassemia major ClinVar Detail
NM_000518.5(HBB):c.316-197C>T AND not provided ClinVar Detail
NM_000518.5(HBB):c.316-197C>T AND Hb SS disease ClinVar Detail
NM_000518.5(HBB):c.316-197C>T AND HBB-related disorder ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs34451549 dbSNP
Genome
hg38
Position
chr11:5,225,923-5,225,923
Variant Type
snv
Reference Allele
G
Alternative Allele
A
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs34451549
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
Genome browser