Annotation Detail
Information
- Associated Genes
- NF1
- Associated Variants
-
NF1 p.Leu763Arg (p.L763R)
(
ENST00000356175.7,
ENST00000691014.1,
ENST00000696138.1,
ENST00000358273.9 )
NF1 p.Leu763Arg (p.L763R) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 ) - Associated Disease
- Neurofibromatosis, type 1
- Source Database
- ClinVar
- Description
- NM_001042492.3(NF1):c.2288T>G (p.Leu763Arg) AND Neurofibromatosis, type 1
- ClinVar Allele ID
- 213257
- ClinVar RefSeq Alternation Syntax
- NM_001042492.3:c.2288T>G
- ClinVar RefSeq Alternation Syntax
- NM_000267.3:c.2288T>G
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2022-03-15
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000196515
- ClinVar Disease
- Neurofibromatosis, type 1
- Observed Origin Sample
- germline
Drugs