Variant (rsID / SNP)

rs183378773

rs183378773 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SRPX2. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SRPX2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Cytoband: Xq22.1
HGVS: NM_014467.3(SRPX2):c.1289G>A (p.Arg430His)
Allele change: Missense_R430H

Associated conditions / phenotypes

Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked

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.