chr21:43094667:T>C Detail (hg38) (U2AF1)

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

Genome

Assembly	Position
hg19	chr21:44,514,777-44,514,777 View the variant detail on this assembly version.
hg38	chr21:43,094,667-43,094,667

HGVS

U2AF1

Type	Transcript	Protein
RefSeq	NM_006758.2:c.470A>G	NP_006749.1:p.Gln157Arg
	NM_001025203.1:c.470A>G	NP_001020374.1:p.Gln157Arg
Ensemble	ENST00000291552.9:c.470A>G	ENST00000291552.9:p.Gln157Arg
	ENST00000380276.6:c.470A>G	ENST00000380276.6:p.Gln157Arg
	ENST00000459639.5:c.251A>G	ENST00000459639.5:p.Gln84Arg

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	Likely pathogenic
Review star
Show details

Links

U2AF1

Type	Database	ID	Link
Gene	MIM	191317	OMIM
	HGNC	12453	HGNC
	Ensembl	ENSG00000160201	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv236092491	TogoVar
	COSMIC	COSM1724986	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2014-10-02	no assertion criteria provided	acute myeloid leukemia	somatic	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
<0.001	de novo myelodysplastic syndromes	We previously identified missense mutations in the U2AF1 splicing factor affecti...	BeFree	25311244	Detail
<0.001	Miller Dieker syndrome	We previously identified missense mutations in the U2AF1 splicing factor affecti...	BeFree	25311244	Detail
<0.001	de novo myelodysplastic syndromes	We previously identified missense mutations in the U2AF1 splicing factor affecti...	BeFree	25311244	Detail

Annotation

Annotations

Descrption	Source	Links
NM_006758.3(U2AF1):c.470A>G (p.Gln157Arg) AND Acute myeloid leukemia	ClinVar	Detail
We previously identified missense mutations in the U2AF1 splicing factor affecting codons S34 (S34F ...	DisGeNET	Detail
We previously identified missense mutations in the U2AF1 splicing factor affecting codons S34 (S34F ...	DisGeNET	Detail
We previously identified missense mutations in the U2AF1 splicing factor affecting codons S34 (S34F ...	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: rs371246226 dbSNP
Genome: hg38
Position: chr21:43,094,667-43,094,667
Variant Type: snv
Reference Allele: T
Alternative Allele: C
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): 121008
Allele Counts in All Race (ExAC): 5
Heterozygous Counts in All Race (ExAC): 5
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 4.131958217638503E-5

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