Annotation Detail
Information
- Associated Genes
- NF1 MIR4733HG LOC111811965
- Associated Variants
-
NF1 p.Glu19Ter (p.E19*)
(
ENST00000696138.1,
ENST00000358273.9,
ENST00000691014.1,
ENST00000356175.7,
ENST00000431387.8,
ENST00000487476.5 )
NF1 p.Glu19Ter (p.E19*) ( ENST00000356175.7, ENST00000358273.9, ENST00000431387.8, ENST00000487476.5, ENST00000691014.1, ENST00000696138.1 ) - Associated Disease
- Neurofibromatosis, familial spinal neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis juvenile myelomonocytic leukemia Neurofibromatosis, type 1
- Source Database
- ClinVar
- Description
- NM_001042492.3(NF1):c.55G>T (p.Glu19Ter) AND multiple conditions
- ClinVar Allele ID
- 184496
- ClinVar RefSeq Alternation Syntax
- NM_001128147.3:c.55G>T
- ClinVar RefSeq Alternation Syntax
- NM_001042492.3:c.55G>T
- ClinVar RefSeq Alternation Syntax
- NM_000267.3:c.55G>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003883138
- 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
- paternal
Drugs