Variant (rsID / SNP)
rs150645079
rs150645079 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LMNA. Location: chromosome 1, position 156,100,522. 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
- 1:156100522
- Cytoband
- 1q22
- HGVS
- NM_170707.4(LMNA):c.471G>A (p.Thr157=)
- Allele change
- Synonymous_T157T
Associated conditions / phenotypes
Cardiomyopathy|Charcot-Marie-Tooth disease type 2|Benign scapuloperoneal muscular dystrophy with cardiomyopathy|Lethal tight skin contracture syndrome|Mandibuloacral dysplasia with type A lipodystrophy|Familial partial lipodystrophy, Dunnigan type|Charcot-Marie-Tooth disease type 2B1|Congenital muscular dystrophy due to LMNA mutation|Hutchinson-Gilford syndrome|Dilated cardiomyopathy 1A|Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules|Emery-Dreifuss muscular dystrophy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.