Variant (rsID / SNP)
rs143836226
rs143836226 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NF1. Location: chromosome 17, position 29,562,948. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:29562948
- Cytoband
- 17q11.2
- HGVS
- NM_001042492.3(NF1):c.3883A>G (p.Thr1295Ala)
- Allele change
- Missense_T1295A
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Neurofibromatosis, type 1|Neurofibromatosis, familial spinal|Neurofibromatosis-Noonan syndrome|Café-au-lait macules with pulmonary stenosis|Neurofibromatosis, type 1|Juvenile myelomonocytic leukemia|Café-au-lait macules with pulmonary stenosis|Neurofibromatosis, familial spinal|Neurofibromatosis-Noonan syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.