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Variant (rsID / SNP)

rs150924946

LMNA

rs150924946 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LMNA. Location: chromosome 1, position 156,105,062. 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
1:156105062
Cytoband
1q22
HGVS
NM_170707.4(LMNA):c.895A>G (p.Ile299Val)
Allele change
Missense_I299V

Associated conditions / phenotypes

Familial partial lipodystrophy, Dunnigan type|Cardiovascular phenotype|Cardiomyopathy|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease type 2

Public references

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