Variant (rsID / SNP)

rs886041090

rs886041090 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRPF1. Location: chromosome 3, position 9,781,133. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

BRPF1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Microsatellite
Chromosome / position: 3:9781133
Cytoband: 3p25.3
HGVS: NM_001003694.2(BRPF1):c.1052_1053del (p.Val351fs)

Associated conditions / phenotypes

Intellectual disability|Intellectual developmental disorder with dysmorphic facies and ptosis

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.