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Variant (rsID / SNP)

rs147327414

NF1

rs147327414 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NF1. Location: chromosome 17, position 29,653,037. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

NF1Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
17:29653037
Cytoband
17q11.2
HGVS
NM_001042492.3(NF1):c.5035A>G (p.Ile1679Val)
Allele change
Missense_I1679V

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Neurofibromatosis, type 1|Neurofibromatosis, familial spinal|Neurofibromatosis-Noonan syndrome|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.