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Variant (rsID / SNP)

rs45577134

LDB3

rs45577134 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LDB3. Location: chromosome 10, position 88,486,007. 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
10:88486007
Cytoband
10q23.2
HGVS
NM_007078.3(LDB3):c.2092G>A (p.Ala698Thr)
Allele change
Missense_A703T

Associated conditions / phenotypes

Primary dilated cardiomyopathy|Myofibrillar myopathy 4|Cardiovascular phenotype|Cardiomyopathy

Public references

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