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Variant (rsID / SNP)

rs876658658

NF1

rs876658658 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NF1. Location: chromosome 17, position 29,422,358. 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
17:29422358
Cytoband
17q11.2
HGVS
NM_001042492.3(NF1):c.31C>T (p.Gln11Ter)
Allele change
Nonsense_Q11X

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Neurofibromatosis, type 1|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.