Variant (rsID / SNP)

rs149051060

rs149051060 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.

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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.1030C>A (p.Leu344Ile)
Allele change: Missense_L344I

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.