rs137854552
A SNP in the NF1 gene on chromosome 17. Its most notable genotype is C;T: Neurofibromatosis type 1
- Gene
- NF1
- Location
- Chr 1731,334,927 (GRCh38)
- Highest magnitude
- 5.5Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CGoodcommon in clinvar
- C;TMost notableBadNeurofibromatosis type 1
On SNPedia: (C;C), (C;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other NF1 SNPs
- rs137854550A;GNeurofibromatosis type 1Very important
- rs137854551A;CNeurofibromatosis type 1Very important
- rs137854553G;TNeurofibromatosis type 1Very important
- rs137854554A;TNeurofibromatosis type 1Very important
- rs137854555A;GNeurofibromatosis type 1Very important
- rs137854556A;GNeurofibromatosis type 1Very important
- rs137854558C;TNeurofibromatosis type 1Very important
- rs137854559C;TNeurofibromatosis type 1Very important
Notes
From SNPedia
Notes
rs137854552, also known as c.5839C>T, p.Arg1947Ter and R1947X, represents a mutation in the NF1 gene on chromosome 17. The rs137854552(T) allele is considered a mutation leading to neurofibromatosis, and it has been observed in patients from several different ethnicities. While many neurofibromatosis mutations are considered to arise de novo, the relatively high frequency of this mutation compared to others suggests it may be more of a hotspot for mutation in the NF1 gene than others.
Source and license
Adapted from rs137854552 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.