Variant (rsID / SNP)

rs794728586

rs794728586 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LMNA. Location: chromosome 1, position 156,084,961. 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: 1:156084961
Cytoband: 1q22
HGVS: NM_170707.4(LMNA):c.252G>C (p.Glu84Asp)
Allele change: Missense_E84D

Associated conditions / phenotypes

Charcot-Marie-Tooth disease type 2

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.