Variant (rsID / SNP)

rs137852815

rs137852815 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CASK. Clinical significance in the table: Pathogenic.

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Reference-table entries

CASKPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xp11.4
HGVS: NM_001367721.1(CASK):c.1915C>T (p.Arg639Ter)
Allele change: Nonsense_R616X

Associated conditions / phenotypes

Syndromic X-linked intellectual disability Najm type

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.