Variant (rsID / SNP)

rs793888533

rs793888533 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PURA. Location: chromosome 5, position 139,494,068. Clinical significance in the table: Pathogenic.

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Reference-table entries

PURAPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 5:139494068
Cytoband: 5q31.3
HGVS: NM_005859.5(PURA):c.302_310del (p.Thr101_Ser103del)

Associated conditions / phenotypes

PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome

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.