chr11:5246928:AG>C Detail (hg19) (HBB, LOC107133510, LOC110006319)

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

Information

Genome

Assembly	Position
hg19	chr11:5,246,928-5,246,929
hg38	chr11:5,225,698-5,225,699 View the variant detail on this assembly version.

HGVS

HBB

Type	Transcript	Protein
RefSeq	NM_000518.4:c.343_344delinsG	NP_000509.1:p.Leu115GlyfsTer44
Ensemble	ENST00000335295.4:c.343_344delinsG	ENST00000335295.4:p.Leu115GlyfsTer44
	ENST00000647020.1:c.343_344delinsG	ENST00000647020.1:p.Leu115GlyfsTer44

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

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	1988-08-01	no assertion criteria provided	Beta zero thalassemia	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.343_344delinsG (p.Leu115fs) AND Beta zero 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: rs41443947 dbSNP
Genome: hg19
Position: chr11:5,246,928-5,246,929
Variant Type: snv
Reference Allele: AG
Alternative Allele: C

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