Variant (rsID / SNP)
rs142191737
rs142191737 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LMNA. Location: chromosome 1, position 156,107,470. 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
- 1:156107470
- Cytoband
- 1q22
- HGVS
- NM_170707.4(LMNA):c.1634G>A (p.Arg545His)
- Allele change
- Missense_R545H
Associated conditions / phenotypes
Peripheral neuropathy|Charcot-Marie-Tooth disease type 2|Dilated cardiomyopathy 1S|Cardiovascular phenotype|Cardiomyopathy|Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules|Benign scapuloperoneal muscular dystrophy with cardiomyopathy|Congenital muscular dystrophy due to LMNA mutation|Emery-Dreifuss muscular dystrophy|Lethal tight skin contracture syndrome|Dilated cardiomyopathy 1A|Mandibuloacral dysplasia with type A lipodystrophy|Charcot-Marie-Tooth disease type 2B1|Familial partial lipodystrophy, Dunnigan type|Hutchinson-Gilford syndrome|Lipodystrophy|7 conditions
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.