Variant (rsID / SNP)
rs386134243
rs386134243 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LMNA. Location: chromosome 1, position 156,105,758. 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
- 1:156105758
- Cytoband
- 1q22
- HGVS
- NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp)
- Allele change
- Missense_R335W
Associated conditions / phenotypes
Primary dilated cardiomyopathy|11 conditions|Charcot-Marie-Tooth disease type 2|Cardiovascular phenotype|Heart-hand syndrome, Slovenian type|Laminopathy|Primary dilated cardiomyopathy|Left ventricular noncompaction|Arrhythmogenic right ventricular 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.