Variant (rsID / SNP)

rs57920071

rs57920071 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LMNA. Location: chromosome 1, position 156,106,775. 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: 1:156106775
Cytoband: 1q22
HGVS: NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp)
Allele change: Missense_R482W

Associated conditions / phenotypes

Familial partial lipodystrophy, Dunnigan type|Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease|Inborn genetic diseases|Familial partial 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.