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Variant (rsID / SNP)

rs121912496

LMNA

rs121912496 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LMNA. Location: chromosome 1, position 156,104,701. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

LMNAPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
1:156104701
Cytoband
1q22
HGVS
NM_170707.4(LMNA):c.745C>T (p.Arg249Trp)
Allele change
Missense_R249W

Associated conditions / phenotypes

Congenital muscular dystrophy due to LMNA mutation|Benign scapuloperoneal muscular dystrophy with cardiomyopathy|Charcot-Marie-Tooth disease type 2

Public references

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