Variant (rsID / SNP)
rs397514641
rs397514641 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NF1. Location: chromosome 17, position 29,497,003. Clinical significance in the table: Pathogenic.
Reference-table entries
NF1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:29497003
- Cytoband
- 17q11.2
- HGVS
- NM_001042492.3(NF1):c.574C>T (p.Arg192Ter)
- Allele change
- Nonsense_R192X
Associated conditions / phenotypes
Neurofibromatosis, type 1|Hereditary cancer-predisposing syndrome|Cafe au lait spots, multiple|Axillary freckling|Focal T2 hyperintense basal ganglia lesion|Neurofibroma|Juvenile myelomonocytic leukemia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.