Variant (rsID / SNP)

rs121908490

rs121908490 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SGCE. Location: chromosome 7, position 94,257,600. Clinical significance in the table: Pathogenic.

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Reference-table entries

SGCEPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:94257600
Cytoband: 7q21.3
HGVS: NM_003919.3(SGCE):c.304C>T (p.Arg102Ter)
Allele change: Nonsense_R102X

Associated conditions / phenotypes

Myoclonic dystonia 11

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.