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Variant (rsID / SNP)

rs80338938

LMNA

rs80338938 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LMNA. Location: chromosome 1, position 156,107,547. 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
1:156107547
Cytoband
1q22
HGVS
NM_005572.4(LMNA):c.1711C>A (p.Arg571Ser)
Allele change
Missense_R571S

Associated conditions / phenotypes

Dilated cardiomyopathy 1A|Charcot-Marie-Tooth disease type 2|Cardiomyopathy

Public references

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