RS137854552 NF1
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What This Variant Does
"rs137854552, also known as c.5839C>
Associated Conditions
Neurofibromatosis
type 1
Hereditary cancer-predisposing syndrome
Juvenile myelomonocytic leukemia
familial spinal
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis-Noonan syndrome
Tibial pseudarthrosis
NF1-related disorder
Cardiovascular phenotype
Neoplasm
Neurofibromatosis
type 1
Hereditary cancer-predisposing syndrome
Juvenile myelomonocytic leukemia
Other Variants in NF1