Variant (rsID / SNP)

rs61295588

rs61295588 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LMNA. Location: chromosome 1, position 156,104,600. 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: 1:156104600
Cytoband: 1q22
HGVS: NM_170707.4(LMNA):c.644T>C (p.Leu215Pro)
Allele change: Missense_L215P

Associated conditions / phenotypes

Dilated cardiomyopathy 1A|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.