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Variant (rsID / SNP)

rs121908338

LDB3

rs121908338 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LDB3. Location: chromosome 10, position 88,446,830. 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
10:88446830
Cytoband
10q23.2
HGVS
NM_001368067.1(LDB3):c.349G>A (p.Asp117Asn)
Allele change
Missense_D232N

Associated conditions / phenotypes

Dilated cardiomyopathy 1C|Primary dilated cardiomyopathy|Myofibrillar myopathy 4|Cardiovascular phenotype

Public references

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