Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs368386019

LMNA

rs368386019 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LMNA. Location: chromosome 1, position 156,108,511. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

LMNAConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:156108511
Cytoband
1q22
HGVS
NM_170707.4(LMNA):c.1931G>A (p.Arg644His)
Allele change
Silent

Associated conditions / phenotypes

Congenital muscular dystrophy|Cardiovascular phenotype|Cardiomyopathy|Charcot-Marie-Tooth disease type 2|Lethal tight skin contracture syndrome

Public references

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