Skip to content
Use your HSA or FSA funds

Gene

NF1

neurofibromin 1

Summary

Cytogenetic location
17q11.2
Coordinates
Chromosome 17: 31,094,977–31,377,675 (GRCh38)
Exons
58 exons across 282.7 kb
Protein
2,839 amino acids
Inheritance
Autosomal dominant
MANE Select transcript
ENST00000358273.9NM_001042492.3
Locus type
gene with protein product

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Neurofibromatosis

    • Autosomal dominant

      A hereditary neoplastic syndrome in which tumors grow in the nervous system. There are typically 3 main types recognized, but other forms with uncertain etiology exist.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong
      What knowing changes

      Genotype-phenotype correlation, MEK inhibitor therapy for inoperable plexiform neurofibromas, Tumor surveillance, cascade testing

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How NF1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 17, with a bracket where NF1 sits. NF1 and 10 genes near it on chromosome 17, from 30,736,326 to 31,736,325.Chromosome 1717q11.2p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.330.8 Mb31 Mb31.2 Mb31.4 Mb31.6 MbCRLF3: 30,769,388–30,824,746, reverse strandCRLF3ATAD5: 30,831,945–30,895,871, forward strandATAD5TEFM: 30,897,336–30,906,762, reverse strandTEFMADAP2: 30,906,344–30,959,945, forward strandADAP2RNF135: 30,970,513–30,999,911, forward strandRNF135NF1: 31,094,977–31,377,675, forward strandNF1OMG: 31,272,013–31,297,539, reverse strandOMGEVI2B: 31,302,871–31,314,421, reverse strandEVI2B: 31,305,213–31,318,831, reverse strandEVI2A: 31,316,410–31,321,754, reverse strandRAB11FIP4: 31,391,605–31,538,211, forward strandRAB11FIP4Diagram of NF1: 58 exons on the forward strand of chromosome 17Exon 1: 27 known disease-causing sitesExon 2: 62 known disease-causing sitesExon 3: 35 known disease-causing sitesExon 4: 72 known disease-causing sitesExon 5: 35 known disease-causing sitesExon 6: 23 known disease-causing sitesExon 7: 30 known disease-causing sitesExon 8: 59 known disease-causing sitesExon 9: 86 known disease-causing sitesExon 10: 51 known disease-causing sitesExon 11: 33 known disease-causing sitesExon 12: 49 known disease-causing sitesExon 13: 63 known disease-causing sitesExon 14: 40 known disease-causing sitesExon 15: 31 known disease-causing sitesExon 16: 53 known disease-causing sitesExon 17: 64 known disease-causing sitesExon 18: 113 known disease-causing sitesExon 19: 32 known disease-causing sitesExon 20: 39 known disease-causing sitesExon 21: 159 known disease-causing sitesExon 22: 49 known disease-causing sitesExon 23: 54 known disease-causing sitesExon 24: 29 known disease-causing sitesExon 25: 52 known disease-causing sitesExon 26: 74 known disease-causing sitesExon 27: 96 known disease-causing sitesExon 28: 71 known disease-causing sitesExon 29: 40 known disease-causing sitesExon 30: 49 known disease-causing sitesExon 32: 68 known disease-causing sitesExon 33: 44 known disease-causing sitesExon 34: 56 known disease-causing sitesExon 35: 59 known disease-causing sitesExon 36: 45 known disease-causing sitesExon 37: 178 known disease-causing sitesExon 38: 132 known disease-causing sitesExon 39: 90 known disease-causing sitesExon 40: 74 known disease-causing sitesExon 41: 36 known disease-causing sitesExon 42: 95 known disease-causing sitesExon 43: 78 known disease-causing sitesExon 44: 23 known disease-causing sitesExon 45: 39 known disease-causing sitesExon 46: 51 known disease-causing sitesExon 47: 55 known disease-causing sitesExon 48: 48 known disease-causing sitesExon 49: 53 known disease-causing sitesExon 50: 49 known disease-causing sitesExon 51: 46 known disease-causing sitesExon 52: 19 known disease-causing sitesExon 53: 47 known disease-causing sitesExon 54: 33 known disease-causing sitesExon 55: 41 known disease-causing sitesExon 56: 11 known disease-causing sitesExon 57: 13 known disease-causing sitesExon 58: 1 known disease-causing siteExon 1: 31,094,977–31,095,369, 393 basesExon 2: 31,155,983–31,156,126, 144 basesExon 3: 31,159,010–31,159,093, 84 basesExon 4: 31,163,186–31,163,376, 191 basesExon 5: 31,169,891–31,169,997, 107 basesExon 6: 31,181,422–31,181,489, 68 basesExon 7: 31,181,710–31,181,785, 76 basesExon 8: 31,182,508–31,182,665, 158 basesExon 9: 31,200,422–31,200,595, 174 basesExon 10: 31,201,037–31,201,159, 123 basesExon 11: 31,201,411–31,201,485, 75 basesExon 12: 31,206,240–31,206,371, 132 basesExon 13: 31,214,451–31,214,585, 135 basesExon 14: 31,219,005–31,219,118, 114 basesExon 15: 31,221,850–31,221,929, 80 basesExon 16: 31,223,444–31,223,567, 124 basesExon 17: 31,225,095–31,225,250, 156 basesExon 18: 31,226,435–31,226,684, 250 basesExon 19: 31,227,218–31,227,291, 74 basesExon 20: 31,227,523–31,227,606, 84 basesExon 21: 31,229,025–31,229,465, 441 basesExon 22: 31,229,835–31,229,974, 140 basesExon 23: 31,230,260–31,230,382, 123 basesExon 24: 31,230,842–31,230,925, 84 basesExon 25: 31,232,073–31,232,189, 117 basesExon 26: 31,232,700–31,232,881, 182 basesExon 27: 31,233,002–31,233,213, 212 basesExon 28: 31,235,611–31,235,772, 162 basesExon 29: 31,235,918–31,236,021, 104 basesExon 30: 31,248,984–31,249,119, 136 basesExon 31: 31,252,938–31,253,000, 63 basesExon 32: 31,258,344–31,258,502, 159 basesExon 33: 31,259,032–31,259,129, 98 basesExon 34: 31,260,369–31,260,515, 147 basesExon 35: 31,261,711–31,261,857, 147 basesExon 36: 31,265,229–31,265,339, 111 basesExon 37: 31,325,820–31,326,252, 433 basesExon 38: 31,327,499–31,327,839, 341 basesExon 39: 31,330,296–31,330,498, 203 basesExon 40: 31,334,838–31,335,031, 194 basesExon 41: 31,336,333–31,336,473, 141 basesExon 42: 31,336,635–31,336,914, 280 basesExon 43: 31,337,368–31,337,582, 215 basesExon 44: 31,337,819–31,337,880, 62 basesExon 45: 31,338,025–31,338,139, 115 basesExon 46: 31,338,704–31,338,805, 102 basesExon 47: 31,340,505–31,340,645, 141 basesExon 48: 31,343,009–31,343,135, 127 basesExon 49: 31,349,120–31,349,251, 132 basesExon 50: 31,350,183–31,350,318, 136 basesExon 51: 31,352,257–31,352,414, 158 basesExon 52: 31,356,460–31,356,582, 123 basesExon 53: 31,356,960–31,357,090, 131 basesExon 54: 31,357,269–31,357,369, 101 basesExon 55: 31,358,480–31,358,622, 143 basesExon 56: 31,358,969–31,359,015, 47 basesExon 57: 31,360,487–31,360,703, 217 basesExon 58: 31,374,013–31,377,675, 3,663 bases11020304050585′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 12.4 kb of the gene's 282.7 kb; 8,520 of those bases code for the protein.

How a genome test reads NF1

3,594

positions in NF1 where ClinVar classes a change as pathogenic or likely pathogenic

1,698 of them (47%) fall in regions short reads find hard.

  • Low mappability (137 sites)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
  • Segmental duplications (1,698 sites)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.

A whole genome covers all 282.7 kb of NF1, introns included, not only the 12.4 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). NF1 gene: neurofibromin 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/nf1

Vancouver

Dante Labs. NF1 gene: neurofibromin 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/nf1

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test