Variant (rsID / SNP)

rs45514002

rs45514002 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LDB3. Location: chromosome 10, position 88,485,932. Clinical significance in the table: Uncertain significance.

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Reference-table entries

LDB3Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 10:88485932
Cytoband: 10q23.2
HGVS: NM_007078.3(LDB3):c.2017G>A (p.Asp673Asn)
Allele change: Missense_D678N

Associated conditions / phenotypes

Dilated cardiomyopathy 1C|Left ventricular noncompaction 3|Myofibrillar myopathy 4

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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