Variant (rsID / SNP)
rs59332535
rs59332535 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LMNA. Location: chromosome 1, position 156,104,702. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
LMNAPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:156104702
- Cytoband
- 1q22
- HGVS
- NM_170707.4(LMNA):c.746G>A (p.Arg249Gln)
- Allele change
- Missense_R249Q
Associated conditions / phenotypes
Benign scapuloperoneal muscular dystrophy with cardiomyopathy|Dilated cardiomyopathy 1A|Muscular dystrophy|Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease type 2B1|Abnormality of the musculature
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.