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Variant (rsID / SNP)

rs34423165

LDB3

rs34423165 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LDB3. Location: chromosome 10, position 88,451,715. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

LDB3Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
10:88451715
Cytoband
10q23.2
HGVS
NM_007078.3(LDB3):c.752A>G (p.Lys251Arg)
Allele change
Missense_K319R

Associated conditions / phenotypes

Cardiomyopathy|Myofibrillar myopathy 4|Dilated Cardiomyopathy, Dominant|Myofibrillar Myopathy, Dominant|Left ventricular noncompaction cardiomyopathy|Cardiovascular phenotype|Dilated cardiomyopathy 1C

Public references

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