Variant (rsID / SNP)

rs58922911

rs58922911 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LMNA. Location: chromosome 1, position 156,084,885. 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: 1:156084885
Cytoband: 1q22
HGVS: NM_170707.4(LMNA):c.176T>G (p.Leu59Arg)
Allele change: Missense_L59R

Associated conditions / phenotypes

Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome

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.