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Variant (rsID / SNP)

rs778405030

NF1

rs778405030 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NF1. Location: chromosome 17, position 29,533,315. 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
17:29533315
Cytoband
17q11.2
HGVS
NM_001042492.3(NF1):c.1318C>T (p.Arg440Ter)
Allele change
Nonsense_R440X

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Neurofibromatosis, type 1|Neurofibromatosis, familial spinal|Juvenile myelomonocytic leukemia|Neurofibromatosis, type 1|Neurofibromatosis-Noonan syndrome|Café-au-lait macules with pulmonary stenosis|Abnormality of the skin

Public references

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