Variant (rsID / SNP)

rs80356546

rs80356546 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to UBA1. Clinical significance in the table: Pathogenic.

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Reference-table entries

UBA1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xp11.3
HGVS: NM_003334.4(UBA1):c.1639A>G (p.Ser547Gly)
Allele change: Missense_S547G

Associated conditions / phenotypes

Infantile-onset X-linked spinal muscular atrophy

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.