Variant (rsID / SNP)

rs869025579

rs869025579 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PGAP1. Location: chromosome 2, position 197,784,746. Clinical significance in the table: Pathogenic.

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Reference-table entries

PGAP1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 2:197784746
Cytoband: 2q33.1
HGVS: NM_024989.4(PGAP1):c.274_276del (p.Pro92del)

Associated conditions / phenotypes

Intellectual disability, autosomal recessive 42|Cerebral visual impairment and intellectual disability

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.