Variant (rsID / SNP)
rs59885338
rs59885338 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LMNA. Location: chromosome 1, position 156,105,059. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
LMNAConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:156105059
- Cytoband
- 1q22
- HGVS
- NM_170707.4(LMNA):c.892C>T (p.Arg298Cys)
- Allele change
- Missense_R298C
Associated conditions / phenotypes
Charcot-Marie-Tooth disease type 2B1|Charcot-Marie-Tooth disease type 2|Autosomal recessive axonal hereditary motor and sensory neuropathy|Hutchinson-Gilford syndrome|Cardiomyopathy|Dilated cardiomyopathy 1A
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.