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Variant (rsID / SNP)

rs58436778

LMNA

rs58436778 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LMNA. Location: chromosome 1, position 156,084,843. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

LMNAConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:156084843
Cytoband
1q22
HGVS
NM_170707.4(LMNA):c.134A>G (p.Tyr45Cys)
Allele change
Missense_Y45C

Associated conditions / phenotypes

Charcot-Marie-Tooth disease type 2

Public references

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