chr11:5246940:A>G 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	chr11:5,246,940-5,246,940
hg38	chr11:5,225,710-5,225,710 View the variant detail on this assembly version.

HGVS

HBB

Type	Transcript	Protein
RefSeq	NM_000518.4:c.332T>C	NP_000509.1:p.Leu111Pro
Ensemble	ENST00000647020.1:c.332T>C	ENST00000647020.1:p.Leu111Pro
	ENST00000335295.4:c.332T>C	ENST00000335295.4:p.Leu111Pro

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

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
other	2017-12-12	no assertion criteria provided		germline	Detail
Pathogenic	2005-01-01	no assertion criteria provided	Beta-plus-thalassemia	germline	Detail
Pathogenic	2005-01-01	no assertion criteria provided	Beta-Showa-Yakushiji thalassemia	germline	Detail
Pathogenic	2016-08-26	criteria provided, single submitter	beta thalassemia	germline	Detail
Pathogenic		criteria provided, single submitter	Hb SS disease	germline	Detail
Pathogenic	2023-05-22	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.120	beta thalassemia major anemia	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000518.4(HBB):c.332T>C (p.Leu111Pro) AND HEMOGLOBIN SHOWA-YAKUSHIJI	ClinVar	Detail
NM_000518.4(HBB):c.332T>C (p.Leu111Pro) AND Beta-plus-thalassemia	ClinVar	Detail
NM_000518.4(HBB):c.332T>C (p.Leu111Pro) AND Beta-Showa-Yakushiji thalassemia	ClinVar	Detail
NM_000518.4(HBB):c.332T>C (p.Leu111Pro) AND beta Thalassemia	ClinVar	Detail
NM_000518.4(HBB):c.332T>C (p.Leu111Pro) AND Hb SS disease	ClinVar	Detail
NM_000518.4(HBB):c.332T>C (p.Leu111Pro) AND not provided	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: rs35256489 dbSNP
Genome: hg19
Position: chr11:5,246,940-5,246,940
Variant Type: snv
Reference Allele: A
Alternative Allele: G
East Asian Chromosome Counts (ExAC): 8634
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 121382
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.238453806989504E-6

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