Variant (rsID / SNP)
rs505058
rs505058 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LMNA. Location: chromosome 1, position 156,106,185. Clinical significance in the table: Benign.
Reference-table entries
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:156106185
- Cytoband
- 1q22
- HGVS
- NM_170707.4(LMNA):c.1338T>C (p.Asp446=)
- Allele change
- Synonymous_D446D
Associated conditions / phenotypes
Cardiovascular phenotype|Familial partial lipodystrophy, Dunnigan type|Congenital muscular dystrophy due to LMNA mutation|Hutchinson-Gilford syndrome|Dilated cardiomyopathy 1A|Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules|Mandibuloacral dysplasia with type A lipodystrophy|Emery-Dreifuss muscular dystrophy|Charcot-Marie-Tooth disease type 2|Limb-Girdle Muscular Dystrophy, Recessive|Lethal tight skin contracture syndrome|Cardiomyopathy|Benign scapuloperoneal muscular dystrophy with cardiomyopathy|Charcot-Marie-Tooth disease type 2B1|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.