Variant (rsID / SNP)
rs267607560
rs267607560 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LMNA. Location: chromosome 1, position 156,084,983. Clinical significance in the table: Likely pathogenic.
Reference-table entries
LMNALikely pathogenic
- Clinical significance (as recorded)
- Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:156084983
- Cytoband
- 1q22
- HGVS
- NM_170707.4(LMNA):c.274C>T (p.Leu92Phe)
- Allele change
- Missense_L92F
Associated conditions / phenotypes
Primary familial dilated cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
