Variant (rsID / SNP)
rs60890628
rs60890628 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LMNA. Location: chromosome 1, position 156,108,298. 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
- 1:156108298
- Cytoband
- 1q22
- HGVS
- NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu)
- Allele change
- Missense_S573L
Associated conditions / phenotypes
Dilated cardiomyopathy 1A|Mandibuloacral dysplasia with type A lipodystrophy, atypical|Familial partial lipodystrophy, Dunnigan type|Cardiovascular phenotype|Charcot-Marie-Tooth disease type 2|Familial partial lipodystrophy|Cardiomyopathy|Charcot-Marie-Tooth disease type 2B1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.