Variant (rsID / SNP)
rs71473272
rs71473272 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LDB3. Location: chromosome 10, position 88,447,027. 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
- 10:88447027
- Cytoband
- 10q23.2
- HGVS
- NM_001368067.1(LDB3):c.546T>C (p.Ser182=)
- Allele change
- Synonymous_S297S
Associated conditions / phenotypes
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.