Variant (rsID / SNP)

rs587783370

rs587783370 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CASK. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CASKConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Cytoband: Xp11.4
HGVS: NM_001367721.1(CASK):c.82C>T (p.Arg28Ter)
Allele change: Nonsense_R28X

Associated conditions / phenotypes

Syndromic X-linked intellectual disability Najm type|Intellectual disability, CASK-related, X-linked|FG syndrome 4

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.