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Variant (rsID / SNP)

rs137854552

NF1

rs137854552 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NF1. Location: chromosome 17, position 29,661,945. Clinical significance in the table: Pathogenic.

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Reference-table entries

NF1Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
17:29661945
Cytoband
17q11.2
HGVS
NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter)
Allele change
Nonsense_R1968X

Associated conditions / phenotypes

Neurofibromatosis, type 1|Hereditary cancer-predisposing syndrome|Juvenile myelomonocytic leukemia|Neurofibromatosis, type 1|Café-au-lait macules with pulmonary stenosis|Neurofibromatosis-Noonan syndrome|Neurofibromatosis, familial spinal|Tibial pseudarthrosis|Neurofibromatosis, type 1

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.