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Variant (rsID / SNP)

rs199474746

NF1

rs199474746 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NF1. Location: chromosome 17, position 29,554,554. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

NF1Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
17:29554554
Cytoband
17q11.2
HGVS
NM_001042492.3(NF1):c.2339C>A (p.Thr780Lys)
Allele change
Missense_T780K

Associated conditions / phenotypes

Neurofibromatosis, type 1|Hereditary cancer-predisposing syndrome

Public references

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