rs1911551060
This variant is located in the NF1 gene.
▶ClinVar annotation
About NF1
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. [provided by RefSeq, Jul 2008]
View all NF1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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