Variant (rsID / SNP)
rs578252294
rs578252294 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NEBL. Location: chromosome 10, position 21,101,771. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
NEBLConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 10:21101771
- Cytoband
- 10p12.31
- HGVS
- NM_006393.3(NEBL):c.2445G>A (p.Val815=)
- Allele change
- Synonymous_V152V
Associated conditions / phenotypes
Primary dilated cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.