Variant (rsID / SNP)

rs267607548

rs267607548 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LMNA. Location: chromosome 1, position 156,105,794. Clinical significance in the table: Uncertain significance.

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Reference-table entries

LMNAUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:156105794
Cytoband: 1q22
HGVS: NM_170707.4(LMNA):c.1039G>A (p.Glu347Lys)
Allele change: Missense_E347K

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.