Variant (rsID / SNP)

rs483352811

rs483352811 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LMNA. Location: chromosome 1, position 156,107,456. Clinical significance in the table: Pathogenic.

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Reference-table entries

LMNAPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:156107456
Cytoband: 1q22
HGVS: NM_170707.4(LMNA):c.1620G>A (p.Met540Ile)
Allele change: Missense_M540I

Associated conditions / phenotypes

Mandibuloacral dysplasia with type A lipodystrophy

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.