Home > Gene Browser > NF1
NF1
- Synonyms
- NFNS, VRNF, WSS
- External resources
- NCBI4763
- OMIM613113
- EnsemblENSG00000196712
- HGNCHGNC:7765
- Summary
- 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.
Variant counts
The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.
- Pathogenic
- 246
- Likely pathogenic
- 9
- VUS
- 11,894
- Likely benign
- 13,835
- Benign
- 4,280
Patient phenotypes
Proportions of phenotypes among 175 patients carrying pathogenic or likely pathogenic variants on NF1 gene are displayed below.
- Phenotype class
- Patients in 3billion (%)
- Abnormality of the nervous system
- 45.7%
- Abnormality of the integument
- 25.1%
- Abnormality of the musculoskeletal system
- 24%
- Abnormality of head or neck
- 22.3%
- Abnormality of the cardiovascular system
- 21.1%
- Abnormality of the eye
- 21.1%
- Neoplasm
- 12.6%
- Abnormality of the genitourinary system
- 10.3%
- Growth abnormality
- 9.1%
- Abnormality of the ear
- 8.6%
- Abnormality of limbs
- 8%
- Abnormality of the digestive system
- 8%
- Abnormality of the immune system
- 4%
- Abnormality of blood and blood-forming tissues
- 2.9%
- Abnormality of prenatal development or birth
- 2.9%
- Abnormality of the endocrine system
- 2.9%
- Abnormality of the respiratory system
- 1.7%
- Abnormality of the breast
- 1.1%
- Constitutional symptom
- 1.1%
- Abnormal cellular phenotype
- 0.6%
- Abnormality of metabolism homeostasis
- 0%
- Abnormality of the thoracic cavity
- 0%
- Abnormality of the voice
- 0%
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