Variant (rsID / SNP)

rs121434609

rs121434609 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GDI1. Clinical significance in the table: Pathogenic.

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Reference-table entries

GDI1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xq28
HGVS: NM_001493.3(GDI1):c.1268G>C (p.Arg423Pro)
Allele change: Missense_R423P

Associated conditions / phenotypes

Intellectual disability, X-linked 41

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.