Annotation Detail
Information
- Associated Genes
- FUS
- Associated Variants
-
FUS p.Arg521His (p.R521H)
(
ENST00000568685.1,
ENST00000380244.8,
ENST00000715542.1,
ENST00000254108.12 )
FUS p.Arg521His (p.R521H) ( ENST00000254108.12, ENST00000380244.8, ENST00000568685.1, ENST00000715542.1 ) - Associated Disease
- amyotrophic lateral sclerosis type 6
- Source Database
- ClinVar
- Description
- NM_004960.4(FUS):c.1562G>A (p.Arg521His) AND Amyotrophic lateral sclerosis type 6
- ClinVar Allele ID
- 31264
- ClinVar RefSeq Alternation Syntax
- NM_001170634.1:c.1559G>A
- ClinVar RefSeq Alternation Syntax
- NM_004960.4:c.1562G>A
- ClinVar RefSeq Alternation Syntax
- NR_028388.2:n.1632G>A
- ClinVar RefSeq Alternation Syntax
- NM_001170937.1:c.1550G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000017612
- ClinVar Disease
- Amyotrophic lateral sclerosis type 6
- Observed Origin Sample
- germline
- Pubmed
- 19251627
- Pubmed
- 19251628
Drugs