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 not provided
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 Likely pathogenic
Review star
Show details
Links
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
COSMIC COSM1724986 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided Myelodysplastic syndromes somatic MGS000005
(TMGS000006)
Keizo Horibe National Hospital Organization Nagoya Medical Center
not provided bronchus or lung, unspecified not provided MGS000042
(TMGS000093)
Hitoshi Nakagama National Cancer Center Japan
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

DescrptionSourceLinks
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
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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