Annotation Detail
Information
- Associated Genes
- NF1
- Associated Variants
-
NF1 p.Leu1411Phe (p.L1411F)
(
ENST00000691014.1,
ENST00000356175.7,
ENST00000358273.9,
ENST00000696138.1 )
NF1 p.Leu1411Phe (p.L1411F) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 ) - Associated Disease
- neurofibromatosis-Noonan syndrome
- Source Database
- ClinVar
- Description
- NM_001042492.3(NF1):c.4231C>T (p.Leu1411Phe) AND Neurofibromatosis-Noonan syndrome
- ClinVar Allele ID
- 39949
- ClinVar RefSeq Alternation Syntax
- NM_000267.3:c.4168C>T
- ClinVar RefSeq Alternation Syntax
- NM_001042492.3:c.4231C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2009-12-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000023983
- ClinVar Disease
- Neurofibromatosis-Noonan syndrome
- Observed Origin Sample
- germline
- Pubmed
- 7586657
- Pubmed
- 19845691
Drugs