Variant (rsID / SNP)
rs137854550
rs137854550 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NF1. Location: chromosome 17, position 29,585,518. Clinical significance in the table: Pathogenic.
Reference-table entries
NF1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:29585518
- Cytoband
- 17q11.2
- HGVS
- NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu)
- Allele change
- Missense_K1444E
Associated conditions / phenotypes
Neurofibromatosis, type 1|Hereditary cancer-predisposing syndrome|Neurofibroma|Cafe au lait spots, multiple|Optic nerve glioma|Axillary freckling|Juvenile myelomonocytic leukemia|Neurofibromatosis, type 1|Café-au-lait macules with pulmonary stenosis|Neurofibromatosis-Noonan syndrome|Neurofibromatosis, familial spinal
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.