chr3:38180205:G>T Detail (hg19) (MYD88)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr3:38,180,205-38,180,205 |
hg38 | chr3:38,138,714-38,138,714 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001172567.1:c.14G>T | NP_001166038.1:p.Gly5Val |
Ensemble | ENST00000417037.8:c.14G>T | ENST00000417037.8:p.Gly5Val |
ENST00000421516.3:c.14G>T | ENST00000421516.3:p.Gly5Val |
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 | [No Data.] |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.003 | T-cell large granular lymphocyte leukemia | They include the V600E BRAF mutation in hairy cell leukemia, the L265P MYD88 mut... | BeFree | 24689848 | Detail |
0.121 | Angioimmunoblastic Lymphadenopathy | They include the V600E BRAF mutation in hairy cell leukemia, the L265P MYD88 mut... | BeFree | 24689848 | Detail |
0.132 | hairy cell leukemia | They include the V600E BRAF mutation in hairy cell leukemia, the L265P MYD88 mut... | BeFree | 24689848 | Detail |
<0.001 | T-cell large granular lymphocyte leukemia | They include the V600E BRAF mutation in hairy cell leukemia, the L265P MYD88 mut... | BeFree | 24689848 | Detail |
0.121 | peripheral T-cell lymphoma | They include the V600E BRAF mutation in hairy cell leukemia, the L265P MYD88 mut... | BeFree | 24689848 | Detail |
0.129 | Waldenstrom Macroglobulinemia | They include the V600E BRAF mutation in hairy cell leukemia, the L265P MYD88 mut... | BeFree | 24689848 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
They include the V600E BRAF mutation in hairy cell leukemia, the L265P MYD88 mutation in Waldenström... | DisGeNET | Detail |
They include the V600E BRAF mutation in hairy cell leukemia, the L265P MYD88 mutation in Waldenström... | DisGeNET | Detail |
They include the V600E BRAF mutation in hairy cell leukemia, the L265P MYD88 mutation in Waldenström... | DisGeNET | Detail |
They include the V600E BRAF mutation in hairy cell leukemia, the L265P MYD88 mutation in Waldenström... | DisGeNET | Detail |
They include the V600E BRAF mutation in hairy cell leukemia, the L265P MYD88 mutation in Waldenström... | DisGeNET | Detail |
They include the V600E BRAF mutation in hairy cell leukemia, the L265P MYD88 mutation in Waldenström... | 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
- -
- Genome
- hg19
- Position
- chr3:38,180,205-38,180,205
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8170
- 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)
- 105888
- 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)
- 9.443940767603506E-6
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