chr11:5246865:GCCACCACTTT> Detail (hg19) (HBB, LOC107133510, LOC110006319)

Information

Genome

Assembly Position
hg19 chr11:5,246,865-5,246,875
hg38 chr11:5,225,635-5,225,645 

HGVS

Type Transcript Protein
RefSeq NM_000518.4:c.397_407delAAAGTGGTGGC NP_000509.1:p.Lys133TrpfsTer4
Ensemble ENST00000647020.1:c.397_407delAAAGTGGTGGC ENST00000647020.1:p.Lys133TrpfsTer4
ENST00000335295.4:c.397_407delAAAGTGGTGGC ENST00000335295.4:p.Lys133TrpfsTer4
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
[No Data.]
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

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
hg19
Position
chr11:5,246,865-5,246,875
Variant Type
snv
Reference Allele
GCCACCACTTT
Alternative Allele
-
Genome browser