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Variant (rsID / SNP)

rs1057518971

LMNA

rs1057518971 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LMNA. Location: chromosome 1, position 156,084,839. 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
1:156084839
Cytoband
1q22
HGVS
NM_170707.4(LMNA):c.130G>T (p.Val44Phe)
Allele change
Missense_V44F

Associated conditions / phenotypes

Congenital muscular dystrophy|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.