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Variant (rsID / SNP)

rs146868519

LAMA4

rs146868519 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAMA4. Location: chromosome 6, position 112,471,715. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

LAMA4Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
6:112471715
Cytoband
6q21
HGVS
NM_001105206.3(LAMA4):c.2171G>A (p.Arg724Lys)
Allele change
Missense_R724K

Associated conditions / phenotypes

Dilated cardiomyopathy 1JJ|Cardiovascular phenotype|Cardiomyopathy|Primary dilated cardiomyopathy

Public references

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