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Variant (rsID / SNP)

rs765425127

NF1

rs765425127 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NF1. Location: chromosome 17, position 29,533,305. 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
17:29533305
Cytoband
17q11.2
HGVS
NM_001042492.3(NF1):c.1308G>A (p.Ser436=)
Allele change
Synonymous_S436S

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Neurofibromatosis, type 1|Neurofibromatosis-Noonan syndrome|Neurofibromatosis, familial spinal|Café-au-lait macules with pulmonary stenosis

Public references

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