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Variant (rsID / SNP)

rs139020143

SELENON

rs139020143 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SELENON. Location: chromosome 1, position 26,135,262. 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
1:26135262
Cytoband
1p36.11
HGVS
NM_020451.3(SELENON):c.729G>A (p.Pro243=)
Allele change
Synonymous_P209P

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.