Variant (rsID / SNP)

rs864622639

rs864622639 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NF1. Location: chromosome 17, position 29,670,117. 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: Microsatellite
Chromosome / position: 17:29670117
Cytoband: 17q11.2
HGVS: NM_001042492.3(NF1):c.7153AACTTT[1] (p.2385NF[1])

Associated conditions / phenotypes

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

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.