Annotation Detail
Information
- Associated Genes
- NF1
- Associated Variants
-
NF1 p.Leu549Pro (p.L549P)
(
ENST00000691014.1,
ENST00000356175.7,
ENST00000431387.8,
ENST00000696138.1,
ENST00000358273.9 )
NF1 p.Leu549Pro (p.L549P) ( ENST00000356175.7, ENST00000358273.9, ENST00000431387.8, ENST00000691014.1, ENST00000696138.1 ) - Associated Disease
- Neurofibromatosis, type 1
- Source Database
- ClinVar
- Description
- NM_001042492.3(NF1):c.1646T>C (p.Leu549Pro) AND Neurofibromatosis, type 1
- ClinVar Allele ID
- 79194
- ClinVar RefSeq Alternation Syntax
- NM_000267.3:c.1646T>C
- ClinVar RefSeq Alternation Syntax
- NM_001042492.3:c.1646T>C
- ClinVar RefSeq Alternation Syntax
- NM_001128147.3:c.1646T>C
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2022-11-19
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000632472
- ClinVar Disease
- Neurofibromatosis, type 1
- Observed Origin Sample
- germline
Drugs