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Variant (rsID / SNP)

rs144086377

LEMD3

rs144086377 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LEMD3. Location: chromosome 12, position 65,564,238. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

LEMD3Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
12:65564238
Cytoband
12q14.3
HGVS
NM_014319.5(LEMD3):c.862C>G (p.Arg288Gly)
Allele change
Missense_R288G

Public references

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