Variant (rsID / SNP)

rs58912633

rs58912633 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LMNA. Location: chromosome 1, position 156,100,479. 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: 1:156100479
Cytoband: 1q22
HGVS: NM_170707.4(LMNA):c.428C>T (p.Ser143Phe)
Allele change: Missense_S143F

Associated conditions / phenotypes

Congenital muscular dystrophy due to LMNA mutation

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.