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Variant (rsID / SNP)

rs70940811

LAMA4

rs70940811 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAMA4. Location: chromosome 6, position 112,452,195. 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
6:112452195
Cytoband
6q21
HGVS
NM_001105206.3(LAMA4):c.3943G>A (p.Val1315Ile)
Allele change
Missense_V1315I

Associated conditions / phenotypes

Cardiovascular phenotype|Dilated cardiomyopathy 1JJ|Cardiomyopathy

Public references

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