chr12:6442655:C>T Detail (hg19) (TNFRSF1A)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:6,442,655-6,442,655 |
| hg38 | chr12:6,333,489-6,333,489 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001065.3:c.350G>A | NP_001056.1:p.Cys117Tyr |
| Ensemble | ENST00000540022.5:c.221G>A | ENST00000540022.5:p.Cys74Tyr |
| ENST00000162749.7:c.350G>A | ENST00000162749.7:p.Cys117Tyr |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
other |
germline
|
MGS000001
(TMGS000137) |
Kenjiro Kosaki | Keio University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
1999-04-02 | no assertion criteria provided | TNF receptor-associated periodic fever syndrome (TRAPS) |
germline
not provided
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.582 | TNF receptor-associated periodic fever syndrome (TRAPS) | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_001065.4(TNFRSF1A):c.350G>A (p.Cys117Tyr) AND TNF receptor-associated periodic fever syndrome (TR... | ClinVar | Detail |
| NA | 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
- rs104895222 dbSNP
- Genome
- hg19
- Position
- chr12:6,442,655-6,442,655
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser