Annotation Detail
Information
- Associated Genes
- NF1
- Associated Variants
-
NF1 p.Arg1830Leu (p.R1830L)
(
ENST00000356175.7,
ENST00000358273.9,
ENST00000684826.1,
ENST00000687027.1,
ENST00000691014.1,
ENST00000693617.1,
ENST00000696138.1 )
NF1 p.Arg1830Leu (p.R1830L) ( ENST00000356175.7, ENST00000358273.9, ENST00000684826.1, ENST00000687027.1, ENST00000691014.1, ENST00000693617.1, ENST00000696138.1 ) - Associated Disease
- Neurofibromatosis, type 1 Neurofibromatosis, familial spinal neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis juvenile myelomonocytic leukemia
- Source Database
- ClinVar
- Description
- NM_001042492.3(NF1):c.5489G>T (p.Arg1830Leu) AND multiple conditions
- ClinVar Allele ID
- 205418
- ClinVar RefSeq Alternation Syntax
- NM_001042492.3:c.5489G>T
- ClinVar RefSeq Alternation Syntax
- NM_000267.3:c.5426G>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2018-10-31
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000762992
- ClinVar Disease
- Neurofibromatosis-Noonan syndrome
- ClinVar Disease
- Neurofibromatosis, type 1
- ClinVar Disease
- Café-au-lait macules with pulmonary stenosis
- ClinVar Disease
- Juvenile myelomonocytic leukemia
- ClinVar Disease
- Neurofibromatosis, familial spinal
- Observed Origin Sample
- unknown
Drugs