Annotation Detail
Information
- Associated Genes
- NF1
- Associated Variants
-
NF1 p.Leu357Pro (p.L357P)
(
ENST00000696138.1,
ENST00000358273.9,
ENST00000487476.5,
ENST00000431387.8,
ENST00000691014.1,
ENST00000356175.7 )
NF1 p.Leu357Pro (p.L357P) ( ENST00000356175.7, ENST00000358273.9, ENST00000431387.8, ENST00000487476.5, ENST00000691014.1, ENST00000696138.1 ) - Associated Disease
- Café-au-lait macules with pulmonary stenosis neurofibromatosis-Noonan syndrome Neurofibromatosis, type 1 juvenile myelomonocytic leukemia Neurofibromatosis, familial spinal
- Source Database
- ClinVar
- Description
- NM_001042492.3(NF1):c.1070T>C (p.Leu357Pro) AND multiple conditions
- ClinVar Allele ID
- 15407
- ClinVar RefSeq Alternation Syntax
- NM_000267.3:c.1070T>C
- ClinVar RefSeq Alternation Syntax
- NM_001042492.3:c.1070T>C
- ClinVar RefSeq Alternation Syntax
- NM_001128147.3:c.1070T>C
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2022-01-04
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002496218
- 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