Annotation Detail
Information
- Associated Genes
- FUS
- Associated Variants
-
FUS p.Pro431Leu (p.P431L)
(
ENST00000568685.1,
ENST00000380244.8,
ENST00000254108.12,
ENST00000715542.1 )
FUS p.Pro431Leu (p.P431L) ( 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.1292C>T (p.Pro431Leu) AND multiple conditions
- ClinVar Allele ID
- 45745
- ClinVar RefSeq Alternation Syntax
- NM_001170634.1:c.1289C>T
- ClinVar RefSeq Alternation Syntax
- NM_004960.4:c.1292C>T
- ClinVar RefSeq Alternation Syntax
- NM_001170937.1:c.1280C>T
- ClinVar RefSeq Alternation Syntax
- NR_028388.2:n.1362C>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2024-01-16
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000765290
- ClinVar Disease
- Tremor, hereditary essential, 4
- ClinVar Disease
- Amyotrophic lateral sclerosis type 6
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs