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NF1

Synonyms
NFNS, VRNF, WSS
External resources
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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