Variant (rsID / SNP)

rs142719253

rs142719253 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SRPX2. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SRPX2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Cytoband: Xq22.1
HGVS: NM_014467.3(SRPX2):c.693C>A (p.His231Gln)
Allele change: Missense_H231Q

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.