chr2:25457242:C>A Detail (hg19) (DNMT3A)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr2:25,457,242-25,457,242 |
hg38 | chr2:25,234,373-25,234,373 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001320893.1:c.1976G>T | NP_001307822.1:p.Arg659Leu |
NM_175629.2:c.2645G>T | NP_783328.1:p.Arg882Leu | |
NM_022552.4:c.2645G>T | NP_072046.2:p.Arg882Leu |
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 |
![]() |
Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
![]() |
2014-10-02 | no assertion criteria provided | acute myeloid leukemia |
![]() |
Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.560 | Leukemia, Myelocytic, Acute | To determine whether mutant IDH enzymes are valid targets for cancer therapy, we... | BeFree | 25795706 | Detail |
0.018 | Leukemia, Myelocytic, Acute | To determine whether mutant IDH enzymes are valid targets for cancer therapy, we... | BeFree | 25795706 | Detail |
0.018 | Leukemia, Myelocytic, Acute | The R882H DNMT3A mutation associated with AML dominantly inhibits wild-type DNMT... | BeFree | 24656771 | Detail |
0.001 | Leukemogenesis | Moreover, DNMT3A-R882H increased the CDK1 protein level and enhanced cell-cycle ... | BeFree | 24497509 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_022552.5(DNMT3A):c.2645G>T (p.Arg882Leu) AND Acute myeloid leukemia | ClinVar | Detail |
To determine whether mutant IDH enzymes are valid targets for cancer therapy, we created a mouse mod... | DisGeNET | Detail |
To determine whether mutant IDH enzymes are valid targets for cancer therapy, we created a mouse mod... | DisGeNET | Detail |
The R882H DNMT3A mutation associated with AML dominantly inhibits wild-type DNMT3A by blocking its a... | DisGeNET | Detail |
Moreover, DNMT3A-R882H increased the CDK1 protein level and enhanced cell-cycle activity, thereby co... | 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
- rs147001633 dbSNP
- Genome
- hg19
- Position
- chr2:25,457,242-25,457,242
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 8648
- 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)
- 121122
- 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)
- 8.256138438929344E-6
Genome browser