Variant (rsID / SNP)

rs59270054

rs59270054 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LMNA. Location: chromosome 1, position 156,084,953. Clinical significance in the table: Pathogenic.

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Reference-table entries

LMNAPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:156084953
Cytoband: 1q22
HGVS: NM_170707.4(LMNA):c.244G>A (p.Glu82Lys)
Allele change: Missense_E82K

Associated conditions / phenotypes

Primary dilated cardiomyopathy|Charcot-Marie-Tooth disease type 2

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.