chr11:5226763:AAA> Detail (hg38) (HBB, LOC106099062, LOC107133510)

Information

Genome

Assembly Position
hg19 chr11:5,247,993-5,247,995 
hg38 chr11:5,226,763-5,226,765

HGVS

Type Transcript Protein
RefSeq NM_000518.4:c.127_129delTTT NP_000509.1:p.Phe43del
Ensemble ENST00000335295.4:c.127_129delTTT ENST00000335295.4:p.Phe43del
ENST00000485743.1:c.127_129delTTT ENST00000485743.1:p.Phe43del
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Uncertain significance
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 1989-01-01 no assertion criteria provided hemoglobinopathy germline Detail
Pathogenic 1989-01-01 no assertion criteria provided Heinz body anemia germline Detail
Uncertain significance 2021-02-11 criteria provided, single submitter not provided unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.263 Hemoglobinopathies NA CLINVAR Detail
0.360 Heinz Body Anemias NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000518.5(HBB):c.127_129del (p.Phe43del) AND Hemoglobinopathy ClinVar Detail
NM_000518.5(HBB):c.127_129del (p.Phe43del) AND Heinz body anemia ClinVar Detail
NM_000518.5(HBB):c.127_129del (p.Phe43del) AND not provided ClinVar 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
rs41417446 dbSNP
Genome
hg38
Position
chr11:5,226,763-5,226,765
Variant Type
snv
Reference Allele
AAA
Alternative Allele
-
Genome browser