Variant (rsID / SNP)

rs121912495

rs121912495 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LMNA. Location: chromosome 1, position 156,105,894. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

LMNAPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:156105894
Cytoband: 1q22
HGVS: NM_170707.4(LMNA):c.1139T>C (p.Leu380Ser)
Allele change: Missense_L380S

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.