Variant (rsID / SNP)
rs1057518904
rs1057518904 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NF1. Location: chromosome 17, position 29,548,950. Clinical significance in the table: Pathogenic.
Reference-table entries
NF1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:29548950
- Cytoband
- 17q11.2
- HGVS
- NM_001042492.3(NF1):c.1721+3A>G
- Allele change
- Missense_Y575C
Associated conditions / phenotypes
Cafe au lait spots, multiple|Neurofibroma|Neurofibromatosis, type 1|Hereditary cancer-predisposing syndrome|Optic nerve glioma|Cafe au lait spots, multiple
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.