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Variant (rsID / SNP)

rs767769359

PRUNE1

rs767769359 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRUNE1. Location: chromosome 1, position 150,997,134. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

PRUNE1Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
1:150997134
Cytoband
1q21.3
HGVS
NM_021222.3(PRUNE1):c.383G>A (p.Arg128Gln)
Allele change
Missense_R128Q

Associated conditions / phenotypes

Abnormality of brain morphology|Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.