Variant (rsID / SNP)
rs114875104
rs114875104 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NEBL. Location: chromosome 10, position 21,106,597. 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
- 10:21106597
- Cytoband
- 10p12.31
- HGVS
- NM_006393.3(NEBL):c.2080C>T (p.Arg694Trp)
- Allele change
- Silent
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.