Variant (rsID / SNP)

rs60872029

rs60872029 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LMNA. Location: chromosome 1, position 156,084,803. Clinical significance in the table: Pathogenic.

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Reference-table entries

LMNAPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 1:156084803
Cytoband: 1q22
HGVS: NM_170707.4(LMNA):c.94_96del (p.Lys32del)

Associated conditions / phenotypes

Congenital muscular dystrophy due to LMNA mutation|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.