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Variant (rsID / SNP)

rs183272965

SELENON

rs183272965 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SELENON. Location: chromosome 1, position 26,142,151. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SELENONConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:26142151
Cytoband
1p36.11
HGVS
NM_020451.3(SELENON):c.1715C>A (p.Thr572Asn)
Allele change
Missense_T538N

Associated conditions / phenotypes

Eichsfeld type congenital muscular dystrophy|Congenital myopathy with fiber type disproportion|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.