Variant (rsID / SNP)
rs196863
rs196863 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NEFM. Location: chromosome 8, position 24,775,542. The table records no clinical significance for this variant.
Reference-table entries
NEFMNot classified
- Variant type
- single nucleotide variant
- Chromosome / position
- 8:24775542
- Cytoband
- 8p21.2
- HGVS
- NM_005382.2(NEFM):c.2174C>A (p.Pro725Gln)
- Allele change
- Missense_P725Q
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.