Variant (rsID / SNP)
rs797044758
rs797044758 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LMNA. Location: chromosome 1, position 156,105,053. Clinical significance in the table: Pathogenic.
Reference-table entries
LMNAPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Insertion
- Chromosome / position
- 1:156105053
- Cytoband
- 1q22
- HGVS
- NM_170707.4(LMNA):c.886_887insA (p.Arg296fs)
Associated conditions / phenotypes
Charcot-Marie-Tooth disease type 2
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.