Variant (rsID / SNP)
rs397517901
rs397517901 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LMNA. Location: chromosome 1, position 156,085,059. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:156085059
- Cytoband
- 1q22
- HGVS
- NM_170707.4(LMNA):c.350A>G (p.Lys117Arg)
- Allele change
- Missense_K117R
Associated conditions / phenotypes
Charcot-Marie-Tooth disease type 2|Hypertrophic cardiomyopathy|Benign scapuloperoneal muscular dystrophy with cardiomyopathy|Emery-Dreifuss muscular dystrophy|Hutchinson-Gilford syndrome|Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules|Charcot-Marie-Tooth disease type 2B1|Dilated cardiomyopathy 1A|Congenital muscular dystrophy due to LMNA mutation|Familial partial lipodystrophy, Dunnigan type|Mandibuloacral dysplasia with type A lipodystrophy|Lethal tight skin contracture syndrome|Cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.