Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs199474724

LMNA

rs199474724 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LMNA. Location: chromosome 1, position 156,104,630. 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
1:156104630
Cytoband
1q22
HGVS
NM_170707.4(LMNA):c.674G>A (p.Arg225Gln)
Allele change
Missense_R225Q

Associated conditions / phenotypes

Benign scapuloperoneal muscular dystrophy with cardiomyopathy|Emery-Dreifuss muscular dystrophy 3, autosomal recessive|Cardiomyopathy|Charcot-Marie-Tooth disease type 2|Abnormality of the musculature

Public references

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