Variant (rsID / SNP)
rs41284307
rs41284307 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SELENON. Location: chromosome 1, position 26,140,683. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
SELENONConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:26140683
- Cytoband
- 1p36.11
- HGVS
- NM_020451.3(SELENON):c.1602+14C>T
- Allele change
- Silent
Associated conditions / phenotypes
SEPN1-Related Disorders|Eichsfeld type congenital muscular dystrophy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
