Variant (rsID / SNP)

rs28933093

rs28933093 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LMNA. Location: chromosome 1, position 156,100,532. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

LMNAPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:156100532
Cytoband: 1q22
HGVS: NM_170707.4(LMNA):c.481G>A (p.Glu161Lys)
Allele change: Missense_E161K

Associated conditions / phenotypes

Dilated cardiomyopathy 1A|Primary dilated cardiomyopathy|Charcot-Marie-Tooth disease type 2|Cardiomyopathy

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.