chr12:6334109:A>G Detail (hg38) (TNFRSF1A)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:6,443,275-6,443,275 View the variant detail on this assembly version. |
| hg38 | chr12:6,334,109-6,334,109 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001065.3:c.175T>C | NP_001056.1:p.Cys59Arg |
| Ensemble | ENST00000162749.7:c.175T>C | ENST00000162749.7:p.Cys59Arg |
| ENST00000440083.7:c.175T>C | ENST00000440083.7:p.Cys59Arg |
Summary
MGeND
| Clinical significance |
Likely pathogenic
Pathogenic
|
| Variant entry | 2 |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Likely pathogenic
|
other |
germline
|
MGS000001
(TMGS000137) |
Kenjiro Kosaki | Keio University | ||||
|
Pathogenic
|
other |
unknown
|
MGS000001
(TMGS000179) |
Kenjiro Kosaki | Keio University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2023-08-11 | criteria provided, single submitter | TNF receptor-associated periodic fever syndrome (TRAPS) |
germline
not provided
unknown
|
Detail |
|
Pathogenic
|
2018-02-09 | criteria provided, single submitter | not provided |
germline
|
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.175T>C (p.Cys59Arg) AND TNF receptor-associated periodic fever syndrome (TRA... | ClinVar | Detail |
| NM_001065.4(TNFRSF1A):c.175T>C (p.Cys59Arg) AND not provided | 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
- rs104895217 dbSNP
- Genome
- hg38
- Position
- chr12:6,334,109-6,334,109
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
Genome browser