Variant (rsID / SNP)

rs121908185

rs121908185 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SELENON. Location: chromosome 1, position 26,140,381. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

SELENONPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:26140381
Cytoband: 1p36.11
HGVS: NM_020451.3(SELENON):c.1397G>A (p.Arg466Gln)
Allele change: Missense_R432Q

Associated conditions / phenotypes

Eichsfeld type congenital muscular dystrophy|SEPN1-Related Disorders|Muscular dystrophy

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.