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Variant (rsID / SNP)

rs372331627

LDB3

rs372331627 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LDB3. Location: chromosome 10, position 88,476,524. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

LDB3Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
10:88476524
Cytoband
10q23.2
HGVS
NM_007078.3(LDB3):c.1672A>G (p.Ile558Val)
Allele change
Missense_I563V

Associated conditions / phenotypes

Arrhythmogenic right ventricular cardiomyopathy|Myofibrillar myopathy 4|Cardiomyopathy

Public references

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