Variant (rsID / SNP)
rs138251566
rs138251566 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LDB3. Location: chromosome 10, position 88,466,442. 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
- 10:88466442
- Cytoband
- 10q23.2
- HGVS
- NM_007078.3(LDB3):c.1051A>G (p.Thr351Ala)
- Allele change
- Silent
Associated conditions / phenotypes
Primary dilated cardiomyopathy|Cardiovascular phenotype|Cardiomyopathy|Hypertrophic cardiomyopathy|Myofibrillar myopathy 4|Dilated cardiomyopathy 1A
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.