Variant (rsID / SNP)

rs267607563

rs267607563 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LMNA. Location: chromosome 1, position 156,106,043. 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: 1:156106043
Cytoband: 1q22
HGVS: NM_170707.4(LMNA):c.1196G>A (p.Arg399His)
Allele change: Missense_R399H

Associated conditions / phenotypes

Charcot-Marie-Tooth disease type 2|Cardiomyopathy

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.