Variant (rsID / SNP)
rs1064796677
rs1064796677 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LMNA. Location: chromosome 1, position 156,105,833. Clinical significance in the table: Pathogenic.
Reference-table entries
LMNAPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:156105833
- Cytoband
- 1q22
- HGVS
- NM_170707.4(LMNA):c.1078C>T (p.Gln360Ter)
- Allele change
- Nonsense_Q360X
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
