Annotation Detail
Information
- Associated Genes
- FUS
- Associated Variants
-
FUS p.Arg521Gly (p.R521G)
(
ENST00000254108.12,
ENST00000715542.1,
ENST00000380244.8,
ENST00000568685.1 )
FUS p.Arg521Gly (p.R521G) ( ENST00000254108.12, ENST00000380244.8, ENST00000568685.1, ENST00000715542.1 ) - Associated Disease
- Tremor, hereditary essential, 4 amyotrophic lateral sclerosis type 6
- Source Database
- ClinVar
- Description
- NM_004960.4(FUS):c.1561C>G (p.Arg521Gly) AND multiple conditions
- ClinVar Allele ID
- 31261
- ClinVar RefSeq Alternation Syntax
- NM_004960.4:c.1561C>G
- ClinVar RefSeq Alternation Syntax
- NM_001170634.1:c.1558C>G
- ClinVar RefSeq Alternation Syntax
- NM_001170937.1:c.1549C>G
- ClinVar RefSeq Alternation Syntax
- NR_028388.2:n.1631C>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-11-10
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000703284
- ClinVar Disease
- Tremor, hereditary essential, 4
- ClinVar Disease
- Amyotrophic lateral sclerosis type 6
- Observed Origin Sample
- germline
Drugs