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Variant (rsID / SNP)

rs201047812

NF1

rs201047812 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NF1. Location: chromosome 17, position 29,559,839. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

NF1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
17:29559839
Cytoband
17q11.2
HGVS
NM_001042492.3(NF1):c.3436G>A (p.Val1146Ile)
Allele change
Missense_V1146I

Associated conditions / phenotypes

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

Public references

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