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NF1 neurofibromin 1

Gene ID: 4763, updated on 17-Jan-2022
Gene type: protein coding
Also known as: WSS; NFNS; VRNF

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. [provided by RefSeq, Jul 2008]

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2012-07-12)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2012-07-12)

ClinGen Genome Curation PagePubMed

Genomic context

Location:
17q11.2
Sequence:
Chromosome: 17; NC_000017.11 (31094927..31377677)
Total number of exons:
58

Links

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