Annotation Detail
Information
- Associated Genes
- FUS
- Associated Variants
-
FUS p.Gln290Ter (p.Q290*)
(
ENST00000568685.1,
ENST00000380244.8,
ENST00000254108.12,
ENST00000715542.1 )
FUS p.Gln290Ter (p.Q290*) ( ENST00000254108.12, ENST00000380244.8, ENST00000568685.1, ENST00000715542.1 ) - Associated Disease
- Tremor, hereditary essential, 4
- Source Database
- ClinVar
- Description
- NM_004960.4(FUS):c.868C>T (p.Gln290Ter) AND Tremor, hereditary essential, 4
- ClinVar Allele ID
- 45746
- ClinVar RefSeq Alternation Syntax
- NM_001170634.1:c.865C>T
- ClinVar RefSeq Alternation Syntax
- NR_028388.2:n.938C>T
- ClinVar RefSeq Alternation Syntax
- NM_004960.4:c.868C>T
- ClinVar RefSeq Alternation Syntax
- NM_001170937.1:c.856C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2012-08-10
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000030720
- ClinVar Disease
- Tremor, hereditary essential, 4
- Observed Origin Sample
- germline
- Pubmed
- 22863194
Drugs