Variant (rsID / SNP)

rs864622142

rs864622142 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NF1. Location: chromosome 17, position 29,553,704. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

NF1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:29553704
Cytoband: 17q11.2
HGVS: NM_001042492.3(NF1):c.2251+2T>G
Allele change: Silent

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.