chr11:5225654:CAGC>TGTGG Detail (hg38) (HBB, LOC107133510, LOC110006319)

Information

Genome

Assembly Position
hg19 chr11:5,246,884-5,246,887 View the variant detail on this assembly version.
hg38 chr11:5,225,654-5,225,657

HGVS

Type Transcript Protein
RefSeq NM_000518.4:c.385_388delinsCCACA NP_000509.1:p.Ala129ProfsTer12
Ensemble ENST00000335295.4:c.385_388delinsCCACA ENST00000335295.4:p.Ala129ProfsTer12
ENST00000647020.1:c.385_388delinsCCACA ENST00000647020.1:p.Ala129ProfsTer12
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance no classification for the single variant
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 2019-11-25 no assertion criteria provided beta thalassemia germline Detail
Pathogenic 2010-06-03 no assertion criteria provided Dominant beta-thalassemia germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.360 Beta Thalassemia, Dominant Inclusion Body Type NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000518.5(HBB):c.[385_388delinsCCACA;397_407del] AND beta Thalassemia ClinVar Detail
NM_000518.5(HBB):c.[385_388delinsCCACA;397_407del] AND Dominant beta-thalassemia 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
rs281864904 dbSNP
Genome
hg38
Position
chr11:5,225,654-5,225,657
Variant Type
snv
Reference Allele
CAGC
Alternative Allele
TGTGG
Genome browser