Variant (rsID / SNP)

rs144851946

rs144851946 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LMNA. Location: chromosome 1, position 156,108,492. 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: 1:156108492
Cytoband: 1q22
HGVS: NM_170707.4(LMNA):c.1912G>A (p.Gly638Arg)
Allele change: Silent

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.