Annotation Detail
Information
- Associated Genes
- FUS
- Associated Variants
-
FUS p.Gly206Ser (p.G206S)
(
ENST00000254108.12,
ENST00000715542.1,
ENST00000568685.1,
ENST00000380244.8 )
FUS p.Gly206Ser (p.G206S) ( ENST00000254108.12, ENST00000380244.8, ENST00000568685.1, ENST00000715542.1 ) - Associated Disease
- amyotrophic lateral sclerosis type 6
- Source Database
- ClinVar
- Description
- NM_004960.4(FUS):c.616G>A (p.Gly206Ser) AND Amyotrophic lateral sclerosis type 6
- ClinVar Allele ID
- 38663
- ClinVar RefSeq Alternation Syntax
- NR_028388.2:n.721G>A
- ClinVar RefSeq Alternation Syntax
- NM_001170634.1:c.613G>A
- ClinVar RefSeq Alternation Syntax
- NM_001170937.1:c.604G>A
- ClinVar RefSeq Alternation Syntax
- NM_004960.4:c.616G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2010-08-31
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000022557
- ClinVar Disease
- Amyotrophic lateral sclerosis type 6
- Observed Origin Sample
- germline
- Pubmed
- 20668259
Drugs