chr11:5248182:C>A Detail (hg19) (HBB, LOC106099062, LOC107133510)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr11:5,248,182-5,248,182
hg38	chr11:5,226,952-5,226,952 View the variant detail on this assembly version.

HGVS

HBB

Type	Transcript	Protein
RefSeq	NM_000518.4:c.70G>T	NP_000509.1:p.Val24Phe
Ensemble	ENST00000647020.1:c.70G>T	ENST00000647020.1:p.Val24Phe
	ENST00000335295.4:c.70G>T	ENST00000335295.4:p.Val24Phe
	ENST00000485743.1:c.70G>T	ENST00000485743.1:p.Val24Phe

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; other
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	COSM380087	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	1982-01-01	no assertion criteria provided	Erythrocytosis, familial, 6	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.008	Cooley's anemia	β-Thalassemia major resulting from compound heterozygosity for HBB: c.92+2T>C...	BeFree	24986053	Detail
0.127	beta^0^ Thalassemia	β-Thalassemia major resulting from compound heterozygosity for HBB: c.92+2T>C...	BeFree	24986053	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000518.4(HBB):c.70G>T (p.Val24Phe) AND HEMOGLOBIN PALMERSTON NORTH	ClinVar	Detail
NM_000518.4(HBB):c.70G>T (p.Val24Phe) AND Erythrocytosis, familial, 6	ClinVar	Detail
β-Thalassemia major resulting from compound heterozygosity for HBB: c.92+2T>C [formerly known as ...	DisGeNET	Detail
β-Thalassemia major resulting from compound heterozygosity for HBB: c.92+2T>C [formerly known as ...	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: rs33929459 dbSNP
Genome: hg19
Position: chr11:5,248,182-5,248,182
Variant Type: snv
Reference Allele: C
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8626
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): 121364
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): 8.239675686364985E-6

Genome browser