Variant (rsID / SNP)
rs61094188
rs61094188 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LMNA. Location: chromosome 1, position 156,106,048. 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
- 1:156106048
- Cytoband
- 1q22
- HGVS
- NM_170707.4(LMNA):c.1201C>T (p.Arg401Cys)
- Allele change
- Missense_R401C
Associated conditions / phenotypes
Catecholaminergic polymorphic ventricular tachycardia 1|Emery-Dreifuss muscular dystrophy|Charcot-Marie-Tooth disease type 2|Primary familial dilated cardiomyopathy|Cardiomyopathy|Charcot-Marie-Tooth disease
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.