Variant (rsID / SNP)
rs201583907
rs201583907 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LMNA. Location: chromosome 1, position 156,106,982. 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
- 1:156106982
- Cytoband
- 1q22
- HGVS
- NM_170707.4(LMNA):c.1567G>A (p.Gly523Arg)
- Allele change
- Missense_G523R
Associated conditions / phenotypes
Cardiovascular phenotype|Charcot-Marie-Tooth disease type 2|Left ventricular noncompaction|Cardiomyopathy|Lethal tight skin contracture syndrome|Dilated cardiomyopathy 1A
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.