Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs1057521927

PRUNE1

rs1057521927 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRUNE1. Location: chromosome 1, position 150,990,336. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

PRUNE1Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
1:150990336
Cytoband
1q21.3
HGVS
NM_021222.3(PRUNE1):c.88G>A (p.Asp30Asn)
Allele change
Missense_D30N

Associated conditions / phenotypes

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

Public references

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