Variant (rsID / SNP)

rs786204835

rs786204835 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PURA. Location: chromosome 5, position 139,494,457. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

PURAPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: Microsatellite
Chromosome / position: 5:139494457
Cytoband: 5q31.3
HGVS: NM_005859.5(PURA):c.691TTC[2] (p.Phe233del)

Associated conditions / phenotypes

PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome|Inborn genetic diseases

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.