chr11:5226798:GCCTAAGGGTGGGAAAATAGACCAA> Detail (hg38) (HBB, LOC106099062, LOC107133510)

Information

Genome

Assembly Position
hg19 chr11:5,248,028-5,248,052 
hg38 chr11:5,226,798-5,226,822

HGVS

Type Transcript Protein
RefSeq NM_000518.4:c.93-23_94delTTGGTCTATTTTCCCACCCTTAGGC NP_000509.1:p.Arg31SerfsTer13
Ensemble ENST00000335295.4:c.93-23_94delTTGGTCTATTTTCCCACCCTTAGGC ENST00000335295.4:p.Arg31SerfsTer13
ENST00000485743.1:c.93-23_94delTTGGTCTATTTTCCCACCCTTAGGC ENST00000485743.1:p.Arg31SerfsTer13
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[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
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1983-07-25 no assertion criteria provided Beta zero thalassemia germline Detail
Pathogenic 2022-11-03 criteria provided, multiple submitters, no conflicts beta thalassemia germline Detail
Pathogenic 2024-01-04 criteria provided, multiple submitters, no conflicts not provided germline Detail
no classifications from unflagged records no classifications from unflagged records not specified germline Detail
Pathogenic 2017-06-16 criteria provided, single submitter Inborn genetic diseases germline Detail
Pathogenic 2023-02-23 criteria provided, multiple submitters, no conflicts Beta-thalassemia HBB/LCRB germline unknown Detail
Pathogenic 2024-03-26 criteria provided, single submitter Malaria, susceptibility to germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.127 beta^0^ Thalassemia NA CLINVAR Detail
0.672 beta thalassemia NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000518.5(HBB):c.93-22_95del AND Beta zero thalassemia ClinVar Detail
NM_000518.5(HBB):c.93-22_95del AND beta Thalassemia ClinVar Detail
NM_000518.5(HBB):c.93-22_95del AND not provided ClinVar Detail
NM_000518.5(HBB):c.93-22_95del AND not specified ClinVar Detail
NM_000518.5(HBB):c.93-22_95del AND Inborn genetic diseases ClinVar Detail
NM_000518.5(HBB):c.93-22_95del AND Beta-thalassemia HBB/LCRB ClinVar Detail
NM_000518.5(HBB):c.93-22_95del AND Malaria, susceptibility to 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
rs193922563 dbSNP
Genome
hg38
Position
chr11:5,226,798-5,226,822
Variant Type
snv
Reference Allele
GCCTAAGGGTGGGAAAATAGACCAA
Alternative Allele
-
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