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NF1

From SNPedia
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23andMeNF1
# SNPs276
 Max MagnitudeChromosome positionSummary
rs1057516197031,095,324
rs1057517848031,227,294
rs1057517967031,181,724
rs1057518134031,219,068
rs1057518326031,325,819
rs1057518360031,181,420
rs1057518475031,336,388
rs1057518792031,229,024
rs1057518807031,338,788
rs1057518842031,227,215
rs1057518884031,155,990
rs1057518904031,221,932
rs1057518974031,334,837
rs1057519369031,340,535
rs1057520575031,334,867
rs1057521097031,163,208
rs1057521098031,200,598
rs1057521848031,233,116
rs1060500242031,260,496
rs1060500245031,181,490
rs1060500252031,095,310
rs1060500255031,325,997
rs1060500266031,338,703
rs1060500268031,337,875
rs1060500271031,233,072
rs1060500273031,230,259
rs1060500274031,181,786
rs1060500276031,233,144
rs1060500278031,223,448
rs1060500284031,170,002
rs1060500286031,343,053
rs1060500292031,261,731
rs1060500295031,356,545
rs1060500296031,336,474
rs1060500300031,349,250
rs1060500301031,200,457
rs1060500307031,214,527
rs1060500308031,235,665
rs1060500312031,337,366
rs1060500319031,248,995
rs1060500320031,156,021
rs1060500321031,159,011
rs1060500323031,182,535
rs1060500327031,352,406
rs1060500331031,214,586
rs1060500333031,357,319
rs1060500335031,350,234
rs1060500338031,337,427
rs1060500344031,338,138
rs1060500345031,337,583
... further results

The NF1 gene, located on chromosome 17, encodes neurofibromin, a protein needed for normal function in many human cell types. Loss-of-function mutations in the NF1 gene can lead to neurofibromatosis type 1 (NF-1), one of the most common dominantly inherited genetic disorders with a birth incidence of 1 in 2,000–3,000.Wikipedia

NF-1 causes tumors along the nervous system which can grow anywhere on the body. Common symptoms of NF-1 include brownish-red spots in the colored part of the eye called Lisch nodules, benign skin tumors called neurofibromas, and larger benign tumors of nerves called plexiform neurofibromas, scoliosis (curvature of the spine), learning disabilities, vision disorders, mental disabilities, multiple café au lait (TCL, name of specifics spots) spots and epilepsy. NF-1 affected individuals also have a much higher rate of cancer and cardiovascular disease than the population in general.Wikipedia

Although over 2,800 different germline NF1 pathogenic variants have been identified in a registry maintained at the University of Alabama at Birmingham (UAB), most are extremely rare; only 31 unique pathogenic variants are present in ≥0.5% of all unrelated individuals. In 2017, UAB researchers published a paper identifying missense mutations in codons 844-848 of the NF1 gene as an important risk factor for severe NF-1 symptoms, and therefore an need for increased disease surveillance of patients with mutations in those codons.10.1016/j.ajhg.2017.12.001

Mutations from codons 844-848 include:

  • rs199474785
  • rs137854566
  • rs199474747
  • rs199474748
  • and currently, there are no rsIDs for:
    • c.2533T>C (p.Cys845Arg)
    • c.2534G>A (p.Cys845Tyr)
    • c.2536G>C (p.Ala846Pro)
    • c.2537C>A (p.Ala846Asp)
    • c.2542G>A (p.Gly848Arg)
    • c.2542G>C (p.Gly848Arg)