Variant (rsID / SNP)

rs58048078

rs58048078 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LMNA. Location: chromosome 1, position 156,104,733. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

LMNALikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:156104733
Cytoband: 1q22
HGVS: NM_170707.4(LMNA):c.777T>A (p.Tyr259Ter)
Allele change: Nonsense_Y259X

Associated conditions / phenotypes

Benign scapuloperoneal muscular dystrophy with cardiomyopathy

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.