Variant (rsID / SNP)

rs797045139

rs797045139 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NF1. Location: chromosome 17, position 29,654,736. Clinical significance in the table: Pathogenic.

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Reference-table entries

NF1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:29654736
Cytoband: 17q11.2
HGVS: NM_001042492.3(NF1):c.5488C>A (p.Arg1830Ser)
Allele change: Missense_R1830C

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.