Variant (rsID / SNP)

rs2294228

rs2294228 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SELENON. Location: chromosome 1, position 26,140,573. Clinical significance in the table: Benign.

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Reference-table entries

SELENONBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:26140573
Cytoband: 1p36.11
HGVS: NM_020451.3(SELENON):c.1506C>A (p.Asn502Lys)
Allele change: Missense_N468K

Associated conditions / phenotypes

SEPN1-Related Disorders|Eichsfeld type congenital 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.