Variant (rsID / SNP)
rs121908335
rs121908335 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LDB3. Location: chromosome 10, position 88,459,081. Clinical significance in the table: Uncertain significance.
Reference-table entries
LDB3Uncertain significance
- Clinical significance (as recorded)
- Uncertain significance
- Variant type
- single nucleotide variant
- Chromosome / position
- 10:88459081
- Cytoband
- 10q23.2
- HGVS
- NM_001368067.1(LDB3):c.802C>T (p.Arg268Cys)
- Allele change
- Silent
Associated conditions / phenotypes
Myofibrillar myopathy 4|Cardiovascular phenotype|Cardiomyopathy|Dilated cardiomyopathy 1C|Primary familial dilated cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
