Variant (rsID / SNP)

rs57508089

rs57508089 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LMNA. Location: chromosome 1, position 156,105,901. 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: 1:156105901
Cytoband: 1q22
HGVS: NM_170707.4(LMNA):c.1146C>T (p.Gly382=)
Allele change: Synonymous_G382G

Associated conditions / phenotypes

Primary dilated cardiomyopathy|Neuromuscular disease|Charcot-Marie-Tooth disease type 2|Cardiovascular phenotype|Dilated cardiomyopathy 1A

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.