Annotation Detail
Information
- Associated Genes
- NF1
- Associated Variants
-
NF1 p.Tyr489Cys (p.Y489C)
(
ENST00000431387.8,
ENST00000356175.7,
ENST00000358273.9,
ENST00000487476.5,
ENST00000691014.1,
ENST00000696138.1 )
NF1 p.Tyr489Cys (p.Y489C) ( ENST00000356175.7, ENST00000358273.9, ENST00000431387.8, ENST00000487476.5, ENST00000691014.1, ENST00000696138.1 ) - Associated Disease
- rhabdomyosarcoma
- Source Database
- ClinVar
- Description
- NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys) AND Rhabdomyosarcoma
- ClinVar Allele ID
- 15393
- ClinVar RefSeq Alternation Syntax
- NM_001042492.3:c.1466A>G
- ClinVar RefSeq Alternation Syntax
- NM_001128147.3:c.1466A>G
- ClinVar RefSeq Alternation Syntax
- NM_000267.3:c.1466A>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2020-09-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001257527
- ClinVar Disease
- Rhabdomyosarcoma
- Observed Origin Sample
- germline
Drugs