chr11:5226904:ACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCA> Detail (hg38) (HBB, LOC106099062, LOC107133510)

Go to:

Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chr11:5,248,134-5,248,177
hg38	chr11:5,226,904-5,226,947

HGVS

HBB

Type	Transcript	Protein
RefSeq	NM_000518.4:c.75_92+26delTGGTGAGGCCCTGGGCAGGTTGGTATCAAGGTTACAAGACAGGT	NP_000509.1:p.Gly26_Arg31del
Ensemble	ENST00000335295.4:c.75_92+26delTGGTGAGGCCCTGGGCAGGTTGGTATCAAGGTTACAAGACAGGT	ENST00000335295.4:p.Gly26_Arg31del
	ENST00000485743.1:c.75_92+26delTGGTGAGGCCCTGGGCAGGTTGGTATCAAGGTTACAAGACAGGT	ENST00000485743.1:p.Gly26_Arg31del
	ENST00000647020.1:c.75_92+26delTGGTGAGGCCCTGGGCAGGTTGGTATCAAGGTTACAAGACAGGT	ENST00000647020.1:p.Gly26_Arg31del

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely pathogenic
Review star
Show details

Links

HBB

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	1984-03-01	no assertion criteria provided	Beta zero thalassemia	germline	Detail
Pathogenic	2019-11-25	no assertion criteria provided	beta thalassemia	germline	Detail
Likely pathogenic	2023-06-05	criteria provided, single submitter	hemoglobinopathy	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.127	beta^0^ Thalassemia	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000518.5(HBB):c.76_92+27del AND Beta zero thalassemia	ClinVar	Detail
NM_000518.5(HBB):c.76_92+27del AND beta Thalassemia	ClinVar	Detail
NM_000518.5(HBB):c.76_92+27del AND Hemoglobinopathy	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: rs63751076 dbSNP
Genome: hg38
Position: chr11:5,226,904-5,226,947
Variant Type: snv
Reference Allele: ACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCA
Alternative Allele: -

Genome browser