chr12:6333835:G>A Detail (hg38) (TNFRSF1A)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:6,443,001-6,443,001 View the variant detail on this assembly version. |
| hg38 | chr12:6,333,835-6,333,835 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001065.3:c.224C>T | NP_001056.1:p.Pro75Leu |
| Ensemble | ENST00000162749.7:c.224C>T | ENST00000162749.7:p.Pro75Leu |
| ENST00000440083.7:c.224C>T | ENST00000440083.7:p.Pro75Leu |
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 | Conflicting classifications of pathogenicity |
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Benign
Likely benign
|
2024-01-31 | criteria provided, multiple submitters, no conflicts | TNF receptor-associated periodic fever syndrome (TRAPS) |
germline
unknown
|
Detail |
|
Benign
|
2022-10-25 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
Uncertain significance
|
2022-04-19 | criteria provided, single submitter | Autoinflammatory syndrome |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.582 | TNF receptor-associated periodic fever syndrome (TRAPS) | The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations i... | UNIPROT | 11443543 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_001065.4(TNFRSF1A):c.224C>T (p.Pro75Leu) AND TNF receptor-associated periodic fever syndrome (TRA... | ClinVar | Detail |
| NM_001065.4(TNFRSF1A):c.224C>T (p.Pro75Leu) AND not provided | ClinVar | Detail |
| NM_001065.4(TNFRSF1A):c.224C>T (p.Pro75Leu) AND Autoinflammatory syndrome | ClinVar | Detail |
| The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestra... | 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
- rs4149637 dbSNP
- Genome
- hg38
- Position
- chr12:6,333,835-6,333,835
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 3450
- East Asian Allele Counts (ExAC)
- 1
- East Asian Heterozygous Counts (ExAC)
- 1
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 2.898550724637681E-4
- Chromosome Counts in All Race (ExAC)
- 50774
- Allele Counts in All Race (ExAC)
- 643
- Heterozygous Counts in All Race (ExAC)
- 603
- Homozygous Counts in All Race (ExAC)
- 20
- Allele Frequency in All Race (ExAC)
- 0.012663961870248552
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