Variant (rsID / SNP)

rs766896025

rs766896025 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NF1. Location: chromosome 17, position 29,562,685. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

NF1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 17:29562685
Cytoband: 17q11.2
HGVS: NM_001042492.3(NF1):c.3765A>G (p.Gln1255=)
Allele change: Synonymous_Q1255Q

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|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.