chr21:44514777:T>C Detail (hg19) (U2AF1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr21:44,514,777-44,514,777 |
hg38 | chr21:43,094,667-43,094,667 View the variant detail on this assembly version. |
HGVS
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 |
Summary
MGeND
Clinical significance |
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Variant entry | 15 |
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 |
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Review star | ![]() |
Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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Myelodysplastic syndromes |
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MGS000005
(TMGS000006) |
Keizo Horibe | National Hospital Organization Nagoya Medical Center | ||||
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bronchus or lung, unspecified |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2014-10-02 | no assertion criteria provided | acute myeloid leukemia |
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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 |
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- Gene
- -
- dbSNP
- rs371246226 dbSNP
- Genome
- hg19
- Position
- chr21:44,514,777-44,514,777
- 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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