Variant (rsID / SNP)

rs377215510

rs377215510 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SELENON. Location: chromosome 1, position 26,139,211. Clinical significance in the table: Pathogenic.

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Reference-table entries

SELENONPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:26139211
Cytoband: 1p36.11
HGVS: NM_020451.3(SELENON):c.1315C>T (p.Arg439Ter)
Allele change: Nonsense_R405X

Associated conditions / phenotypes

Eichsfeld type congenital muscular dystrophy|See cases

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.