NF1 Chromosome 17
Neurofibromin 1
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What This Gene Does
This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The mRNA for this gene is subject to RNA editing (CGA>UGA->Arg1306Term) resulting in premature translation termination. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Armadillo like helical domain containing|CRAL-TRIO lipid binding domain containing"
Locus Type
gene with protein product
Location
17q11.2
Ensembl
ENSG00000196712
Associated Conditions (120)
Neurofibromatosis
type 1
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
Juvenile myelomonocytic leukemia
NF1-related disorder
familial spinal
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Uterine corpus endometrial carcinoma
Ovarian cancer
Thymoma
Ovarian serous cystadenocarcinoma
Malignant tumor of esophagus
Rosette-forming glioneuronal tumor
Tuberous sclerosis syndrome
10 conditions
Breast-ovarian cancer
familial
susceptibility to
+100 more conditions
Key Variants
RS1007047958
Conflicting classifications of pathogenicity
Neurofibromatosis, type 1, Cardiovascular phenotype
Health Risk
RS1014307120
Conflicting classifications of pathogenicity
Neurofibromatosis, type 1, Cardiovascular phenotype
Health Risk
RS1021835871
Conflicting classifications of pathogenicity
Neurofibromatosis, type 1, Cardiovascular phenotype
Health Risk
RS1024333224
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Neurofibromatosis, type 1
Health Risk
RS1024484381
Conflicting classifications of pathogenicity
Neurofibromatosis, type 1, Cardiovascular phenotype
Health Risk
RS1028639542
Conflicting classifications of pathogenicity
Neurofibromatosis, type 1, Hereditary cancer-predisposing syndrome
Health Risk
RS1028961967
Conflicting classifications of pathogenicity
Neurofibromatosis, type 1, Hereditary cancer-predisposing syndrome
Health Risk
RS1033348008
Conflicting classifications of pathogenicity
Neurofibromatosis, type 1, Hereditary cancer-predisposing syndrome
Health Risk
RS1033427343
Conflicting classifications of pathogenicity
Neurofibromatosis, type 1, Hereditary cancer-predisposing syndrome
Health Risk
RS1044698498
Conflicting classifications of pathogenicity
Neurofibromatosis, type 1, Cardiovascular phenotype
Health Risk
RS1057517848
Conflicting classifications of pathogenicity
Neurofibromatosis, type 1, Hereditary cancer-predisposing syndrome
Health Risk
RS1057518362
Conflicting classifications of pathogenicity
Neurofibromatosis, type 1, Juvenile myelomonocytic leukemia
Health Risk
All Variants (4717)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1555536701 | Health Risk | Pathogenic | Neurofibromatosis, type 1, Cardiovascular phenotype |
| RS1555536724 | Health Risk | Pathogenic | Neurofibromatosis, type 1, Neurofibromatosis |
| RS1555536765 | Health Risk | Pathogenic | Neurofibromatosis, type 1, Neurofibromatosis |
| RS1555536773 | Health Risk | Pathogenic | Neurofibromatosis, type 1, Chromosome 17q11.2 deletion syndrome |
| RS1555536882 | Health Risk | Pathogenic | Neurofibromatosis, type 1, Cardiovascular phenotype |
| RS1555536923 | Health Risk | Pathogenic | Neurofibromatosis, type 1, Neurofibromatosis |
| RS1555536928 | Health Risk | Pathogenic | Neurofibromatosis, type 1, Neurofibromatosis |
| RS1555536947 | Health Risk | Pathogenic | Neurofibromatosis, type 1, Neurofibromatosis |
| RS1555604877 | Health Risk | Pathogenic | Spinal neurofibroma, Spinal neurofibroma |
| RS1555604897 | Health Risk | Pathogenic | Neurofibromatosis, type 1, Neurofibromatosis |
| RS1555604899 | Health Risk | Pathogenic | Neurofibromatosis, type 1, Cardiovascular phenotype |
| RS1555604935 | Health Risk | Pathogenic | Neurofibromatosis, type 1, Neurofibromatosis |
| RS1555604939 | Health Risk | Pathogenic | Neurofibromatosis, type 1, Hereditary cancer-predisposing syndrome |
| RS1555604941 | Health Risk | Pathogenic | Cardiovascular phenotype, Hereditary cancer-predisposing syndrome, Cardiovascular phenotype |
| RS1555604942 | Health Risk | Pathogenic | — |
| RS1555605362 | Health Risk | Pathogenic | Neurofibromatosis, type 1, Gastric cancer |
| RS1555605396 | Health Risk | Pathogenic | Neurofibromatosis, type 1, Neurofibromatosis |
| RS1555605404 | Health Risk | Pathogenic | Neurofibromatosis, type 1, Neurofibromatosis |
| RS1555605406 | Health Risk | Pathogenic | Neurofibromatosis, type 1, Neurofibromatosis |
| RS1555605409 | Health Risk | Pathogenic | Neurofibromatosis, type 1, Cardiovascular phenotype |
| RS1555606053 | Health Risk | Pathogenic | Neurofibromatosis, type 1, Neurofibromatosis |
| RS1555606061 | Health Risk | Pathogenic | Neurofibromatosis, type 1, Cardiovascular phenotype |
| RS1555606080 | Health Risk | Pathogenic | — |
| RS1555606098 | Health Risk | Pathogenic | — |
| RS1555606137 | Health Risk | Pathogenic | Neurofibromatosis, type 1, Cardiovascular phenotype |
| RS1555607093 | Health Risk | Pathogenic | Neurofibromatosis, type 1, Neurofibromatosis |
| RS1555607102 | Health Risk | Pathogenic | Neurofibromatosis, type 1, Neurofibromatosis |
| RS1555607107 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Neurofibromatosis, type 1 |
| RS1555607110 | Health Risk | Pathogenic | Neurofibromatosis, type 1, Neurofibromatosis |
| RS1555607112 | Health Risk | Pathogenic | Neurofibromatosis, type 1, Cardiovascular phenotype |
| RS1555607126 | Health Risk | Pathogenic | Neurofibromatosis, type 1, Cardiovascular phenotype |
| RS1555608647 | Health Risk | Pathogenic | Neurofibromatosis, type 1, Neurofibromatosis |
| RS1555608736 | Health Risk | Pathogenic | Neurofibromatosis, type 1, Neurofibromatosis |
| RS1555608737 | Health Risk | Pathogenic | Cardiovascular phenotype, Hereditary cancer-predisposing syndrome, Cardiovascular phenotype |
| RS1555608763 | Health Risk | Pathogenic | Neurofibromatosis, type 1, Neurofibromatosis |
| RS1555608765 | Health Risk | Pathogenic | Neurofibromatosis, type 1, Neurofibromatosis |
| RS1555608924 | Health Risk | Pathogenic | Neurofibromatosis, type 1, Neurofibromatosis |
| RS1555608925 | Health Risk | Pathogenic | — |
| RS1555608928 | Health Risk | Pathogenic | Neurofibromatosis, type 1, Hereditary cancer-predisposing syndrome |
| RS1555610774 | Health Risk | Pathogenic | Neurofibromatosis, type 1, Neurofibromatosis |
| RS1555610848 | Health Risk | Pathogenic | Neurofibromatosis, type 1, Neurofibromatosis |
| RS1555610854 | Health Risk | Pathogenic | Neurofibromatosis, type 1, Neurofibromatosis |
| RS1555610860 | Health Risk | Pathogenic | Neurofibromatosis, type 1, Neurofibromatosis |
| RS1555610879 | Health Risk | Pathogenic | — |
| RS1555610881 | Health Risk | Pathogenic | Neurofibromatosis, type 1, Juvenile myelomonocytic leukemia |
| RS1555610893 | Health Risk | Pathogenic | Neurofibromatosis, type 1, Cardiovascular phenotype |
| RS1555610900 | Health Risk | Pathogenic | Neurofibromatosis, type 1, Neurofibromatosis |
| RS1555610905 | Health Risk | Pathogenic | Neurofibromatosis, type 1, familial spinal |
| RS1555610910 | Health Risk | Pathogenic | Neurofibromatosis, type 1, Hereditary cancer-predisposing syndrome |
| RS1555610955 | Health Risk | Pathogenic | Neurofibromatosis, type 1, Cardiovascular phenotype |