Variant (rsID / SNP)

rs764079291

rs764079291 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NF1. Location: chromosome 17, position 29,528,489. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

NF1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:29528489
Cytoband: 17q11.2
HGVS: NM_001042492.3(NF1):c.1246C>T (p.Arg416Ter)
Allele change: Nonsense_R416X

Associated conditions / phenotypes

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.