Variant (rsID / SNP)

rs876658541

rs876658541 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NF1. Location: chromosome 17, position 29,665,110. 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: 17:29665110
Cytoband: 17q11.2
HGVS: NM_001042492.3(NF1):c.6772C>T (p.Arg2258Ter)
Allele change: Nonsense_R2258X

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Neurofibromatosis, type 1|Tibial pseudarthrosis|Neurofibromatosis, type 1

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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