chr12:6442545:C>T Detail (hg19) (TNFRSF1A)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:6,442,545-6,442,545 |
| hg38 | chr12:6,333,379-6,333,379 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001065.3:c.460G>A | NP_001056.1:p.Val154Met |
| Ensemble | ENST00000440083.7:c.460G>A | ENST00000440083.7:p.Val154Met |
| ENST00000540022.5:c.331G>A | ENST00000540022.5:p.Val111Met |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:<0.001 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance |
Uncertain significance
|
| Review star |  |
| 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 |
|---|---|---|---|---|---|
|
Uncertain significance
|
2023-11-27 | criteria provided, multiple submitters, no conflicts | TNF receptor-associated periodic fever syndrome (TRAPS) |
germline
|
Detail |
|
Uncertain significance
|
2023-03-13 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Uncertain significance
|
2022-04-15 | criteria provided, single submitter | TNF receptor-associated periodic fever syndrome (TRAPS),Multiple sclerosis, susceptibility to, 5 |
unknown
|
Detail |
|
Uncertain significance
|
2022-04-15 | criteria provided, single submitter | TNF receptor-associated periodic fever syndrome (TRAPS),Multiple sclerosis, susceptibility to, 5 |
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_001065.4(TNFRSF1A):c.460G>A (p.Val154Met) AND TNF receptor-associated periodic fever syndrome (TR... | ClinVar | Detail |
| NM_001065.4(TNFRSF1A):c.460G>A (p.Val154Met) AND not provided | ClinVar | Detail |
| NM_001065.4(TNFRSF1A):c.460G>A (p.Val154Met) AND multiple conditions | ClinVar | Detail |
| NM_001065.4(TNFRSF1A):c.460G>A (p.Val154Met) AND multiple conditions | ClinVar | 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
- rs201083197 dbSNP
- Genome
- hg19
- Position
- chr12:6,442,545-6,442,545
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs201083197
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0003
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 5
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 7738
- 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)
- 107474
- Allele Counts in All Race (ExAC)
- 14
- Heterozygous Counts in All Race (ExAC)
- 14
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 1.302640638666096E-4
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