Variant (rsID / SNP)

rs2070169

rs2070169 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to UBA1. Clinical significance in the table: Benign.

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Reference-table entries

UBA1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Cytoband: Xp11.3
HGVS: NM_003334.4(UBA1):c.1340G>A (p.Arg447His)
Allele change: Missense_R447H

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.