chr16:31200479:C>T Detail (hg19) (FUS)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr16:31,200,479-31,200,479 |
| hg38 | chr16:31,189,158-31,189,158 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001170634.1:c.865C>T | NP_001164105.1:p.Gln289Ter |
| NM_001170937.1:c.868C>T | NP_001164408.1:p.Gln290Ter | |
| NM_004960.3:c.868C>T | NP_004951.1:p.Gln290Ter |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
2012-08-10 | no assertion criteria provided | Tremor, hereditary essential, 4 |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.240 | Tremor, hereditary essential, 4 | NA | CLINVAR | Detail | |
| 0.004 | essential tremor | Exome sequencing in a large essential tremor (ET) family identified a novel nons... | BeFree | 24080306 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_004960.4(FUS):c.868C>T (p.Gln290Ter) AND Tremor, hereditary essential, 4 | ClinVar | Detail |
| NA | DisGeNET | Detail |
| Exome sequencing in a large essential tremor (ET) family identified a novel nonsense mutation (p.Q29... | 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
- rs387907274 dbSNP
- Genome
- hg19
- Position
- chr16:31,200,479-31,200,479
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser