Variant (rsID / SNP)
rs45487699
rs45487699 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LDB3. Location: chromosome 10, position 88,441,437. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
LDB3Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 10:88441437
- Cytoband
- 10q23.2
- HGVS
- NM_007078.3(LDB3):c.566C>T (p.Ser189Leu)
- Allele change
- Missense_S189L
Associated conditions / phenotypes
Dilated cardiomyopathy 1C|Familial hypertrophic cardiomyopathy 24|Myofibrillar myopathy 4|Cardiovascular phenotype|Dilated cardiomyopathy 1A|Cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.