Variant (rsID / SNP)
rs11575937
rs11575937 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LMNA. Location: chromosome 1, position 156,106,776. 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
- 1:156106776
- Cytoband
- 1q22
- HGVS
- NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln)
- Allele change
- Missense_R482Q
Associated conditions / phenotypes
Familial partial lipodystrophy, Dunnigan type|Laminopathy|Emery-Dreifuss muscular dystrophy 3, autosomal recessive|Charcot-Marie-Tooth disease type 2|Monogenic diabetes|11 conditions|Cardiomyopathy|Dilated cardiomyopathy 1A
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.